Undiagnosed Diseases DNA Tests

Merogenomics is a wholesaler of DNA sequencing tests and supporting services for clinical purposes. For this reason, all tests accessed through Merogenomics require a medical doctor to sign the test requisition form. We provide access to the best quality tests for medical purposes to be used by the ordering physician for the medical management of the client/patient. Merogenomics provides educational support for each individual towards informed consent prior to the purchase of the test. Merogenomics provides support to the ordering physician in terms of background information and access to resources. The description of offered tests is subject to change and the website descriptions for Merogenomics may not reflect the exact offer, depending upon test offer changes and website updates.

 

 

Test options

 

Cardiology Gene Panel

Gene panel sequencing is the process of decoding the order of nucleotide bases in the DNA of selected genes currently known to be associated with the health-impacting condition being investigated. Variants (changes) observed in the DNA between different individuals afford insights into the variations in a specific health condition of interest that might affect the medical management of such an individual. Panels can range in the number of genes included in them, depending on the disease area being investigated. The cardiology gene panel looks for DNA alterations in a select 167 genes which are validated to play a role in hereditary cardiovascular disease and the development of lipid disorders. Please expand the following sections for further details.

$399 USD

Canadian clients will be charged in Canadian dollars according to conversion rate of the current day. Volume discounts are available. Payment does not occur until after the consultation and the signing of the requisition form by a medical doctor has been completed.

Expand to see additional information

Test Description

  • Gene panel sequencing provides the overview of alterations in an individual’s DNA code in specific genes that are related to numerous cardiovascular diseases and the predisposition of lipid disorders, including conditions where the first presentation may be sudden death
  • This test is used for clinical purposes and should not be regarded as investigational or for research purposes
  • The test must be ordered by a medical doctor who will oversee the clinical report based on the DNA sequence interpretation
  • The test is for persons with a suspected genetic and undiagnosed condition, and is used when an unclear condition cannot readily be linked to a clinical diagnosis, or for patients with a clinical diagnosis requiring further refinement for personalized medical management based on a genetic diagnosis
  • Suspected conditions compatible with this gene panel sequencing include:
    • Cardiomyopathies (hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, multiple types of cardiomyopathies, or a complex family history)
    • Inherited arrhythmias (long QT, Brugada, and short QT syndromes, unclear arrhythmia diagnosis, or catecholaminergic polymorphic ventricular tachycardia)
    • Lipid disorders (familial hypercholesterolemia, sitosterolemia, familial chylomicronemia syndrome, familial HDL deficiency, lysosomal acid lipase deficiency, LCAT deficiency/Fish-eye disease, hyperlipoproteinemia type III, cerebrotendinous xanthomatosis (CTX), or apolipoprotein C-III deficiency)
    • Thoracic aortic aneurysms/dissections, Marfan syndrome, Ehlers-Danlos Syndrome and related disorders
    • Congenital heart defects
    • Noonan syndrome and other RASopathies
    • Other relevant disorders (hereditary hemorrhagic telangiectasia, familial transthyretin amyloidosis, glycogen storage disease type II/Pompe, or transthyretin amyloidosis)
  • This test is not to diagnose any other inherited suspected genetic conditions or to obtain pharmacogenetic information. Please refer to the “Full Genome Sequencing” option below for a diagnostic test with the most comprehensive view of alterations in an individual’s DNA code, including pharmacogenetics information and secondary findings
  • Anonymized patient/client clinically-relevant information will be included in public databases to help with the future medical analysis of human genomes. Databases contain cumulative results from around the world and do not include information that can personally identify the patient/client
  • The test might not provide a diagnosis if either the causes of the condition are not genetic in nature, or the causative variant is not identified. Even with a successful DNA diagnosis, it is possible that the information might not help in predicting a prognosis or change medical management or the treatment of the disease
  • The test can be paid for directly by the patient/client. Interest-free payment plans are available. Insurance billing is available and can be investigated up-front to determine out-of-pocket expenses. Institutional billing is also available for organizations that prefer to bill patients/clients directly

Test Deliverables

  • Merogenomics provides background education towards patient/client informed consent
  • The collection kit can be for a saliva or a blood sample, with prepaid shipping included
  • Services are fully insured, and are HIPAA, CLIA and CAP compliant
  • The results are available within 14-21 days
  • A concise clinical report is delivered to the ordering doctor only, and then subsequently discussed and shared with the patient/client. The report lists variants associated with the increased risk of cardiovascular diseases with a known genetic component
  • The previous medical information of the patient/client already collected by the ordering physician will be incorporated into the analysis
  • The databases used for DNA sequence interpretation are regularly updated, and novel findings pertaining to  currently unknown variants identified in a patient/client  will be delivered to the ordering physician will be continuously notified for the duration of DNA data storage by the company

Test Benefits

  • Can clarify or confirm a diagnosis in order to point to appropriate medical management and prevention of sudden cardiac arrest, aortic aneurysms/dissections, and other complications
  • Can affect personalized medical management in individuals with cardiomyopathies or other underlying cardiovascular diseases
  • Post-mortem diagnosis in an event of sudden death which was unexplained by an autopsy
  • The test results can help identify other at-risk family members versus those who can be released from clinical surveillance
  • The discovery of a pathogenic variant (a DNA change that is capable of causing disease), in the patient/client allows for the screening of additional closely-related family members for the same pathogenic variant at no additional charge. Conditions may apply
  • Patient/client data is securely stored on cloud for subsequent re-analysis
  • The entire process closely follows the Canadian and American guidelines, therefore there is a high level of proper accountability for the clinic

Test Limitations

  • Biological sample quality can influence the scope and quality of the final decoded DNA sequence data, and therefore its interpretation
  • If a new gene or variant is added to a panel, the previous information cannot be updated for that particular gene or variant if the patient/client has not been tested for it in the first place. Therefore to capture any novel DNA sequence information, the patient/client would have to retake the test
  • It is possible that previously unidentified variants with clinical implications might be present in the selected genes that are not investigated by the test due to incomplete DNA sequence analysis, therefore a negative result cannot rule out the possibility that the patient carries an unexamined mutation
  • False positive results can occur and all clinically relevant identified alterations are recommended to be validated by separate technology
  • The test does not detect alterations which are not caused by a change in the DNA sequence, such as gene expression, epigenetic modifications, fusion, or chromosome conformational changes
  • The interpretation will be limited to the current state of scientific knowledge of how DNA changes lead to a disease. This scientific knowledge can also contain mistakes
  • Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances. Cultured fibroblasts will be required instead
  • Psychological consequences can be severe with high risk individuals and patients/clients should be screened prior to testing
  • The test does not consider somatic alterations (non-inherited DNA changes acquired post-birth throughout one’s lifetime)
  • The test has not been cleared or approved by the US Food and Drug Administration. The FDA does not require this test to go through a premarket FDA review

Ordering Physician Information

  • All tests offered through Merogenomics require a physician to sign a test requisition for regulatory compliance reasons. Once the requisition form is signed by the doctor, the ordering doctor does not have to participate in the process until the receipt of the test results
  • Merogenomics can provide detailed background information to the ordering physician on the test process. Merogenomics also provides additional education towards patient/client informed consent
  • Testing provisions as recommended according to sequencing guidelines are as follows:
    • Always recommended for testing: hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, restrictive cardiomyopathy, long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and autopsy-negative sudden cardiac death
    • Recommended for testing when criteria are met: dilated cardiomyopathy, familial hypercholesterolemia, thoracic aortic aneurysm/dissection, sitosterolemia, and familial chylomicronemia syndrome
    • May be considered for testing: Brugada syndrome, type I, left ventricular  non-compaction, and peripartum cardiomyopathy
  • In the case of a clear diagnosis, more targeted panels are available as a first-tier approach to reduce the chances of secondary or uncertain findings
  • The test results should be interpreted in context with any other available patient/client clinical findings
  • It is recommended by genome sequencing guidelines that the patient/client undergoes genetic counseling prior to and after clinical DNA testing
  • The DNA sequencing and interpretation takes place in a CLIA/CAP certified laboratory
  • Patient data is HIPAA compliant, securely stored on cloud for continuous re-analysis, and never sold or shared with third-party companies
  • The ordering physician will be the recipient of the gene panel sequencing analysis clinical report. The patient/client will not obtain these results independent of the ordering physician. Merogenomics will not have access to the patient/client report, but can review the report after the receipt of the data if requested by the patient/client
  • The report is designed with doctors in mind and will be divided into the following sections:
    • The first page will have a condensed summary listing all of the clinically relevant results which will be listed as follows:
      • Pathogenic or likely pathogenic results – the information requiring the utmost attention spanning the entire genome
      • Variants of unknown significance – DNA changes currently without evidence of clinical impacts
      • Structural variants – large scale DNA changes such as gross deletions or duplications
      • The summary of the results and their interpretation
      • Genes analyzed in the panel
    • The final pages are devoted to the methods of testing and the limitations of the procedure
  • Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances
  • For cancer patients undergoing chemotherapy treatment, the DNA quality may be affected if the patient has received treatment in the past 120 days, potentially requiring sample resubmission

Technical Information

  • Targeted sequence enrichment is performed using PCR. Either next-generation sequencing or Sanger sequencing of all exons (the gene section that is the code for protein development), and flanking regions of 5’ and 3’ ends of all the introns and untranslated regions and promoter regions of select genes (DNA regions involved in gene use regulation), is completed
  • The test provides over 99% sensitivity
  • Proprietary methods identify and analyze the following types of variants:
    • Small sequence changes:
      • Single nucleotide variants (SNVs, alterations that affect only one nucleotide at a time - also termed single nucleotide polymorphisms or SNPs)
      • Insertions and deletions (indels under 50 bp)
    • Structural variants (DNA alterations that affect large segments of DNA of more than 50 bp, and can include insertions, deletions, or copy number variations or CNVs: the duplication of a particular DNA segment)
  • Identification of structural variants in selected genes are confirmed with multiplex ligation-dependent probe amplification and/or targeted chromosomal microarray
  • For clinical genes with related pseudogenes, sequencing is performed to confirm mutation presence in the gene of interest and not in the pseudogene
  • Genes investigated: ABCA1, ABCC9, ABCG5, ABCG8, ACTA2, ACTC1, ACTN2, ACVRL1, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, APOA5, APOB, APOC2, APOC3, APOE, BAG3, BGN, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CBL, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRYAB, CSRP3, CYP27A1, DES, DMD, DOLK, DSC2, DSG2, DSP, EFEMP2, EMD, ENG, EPHB4, EYA4, FBN1, FBN2, FHL1, FKBP14, FKRP, FKTN, FLNA, FLNC, FOXE3, GAA, GATA4, GATAD1, GDF2, GLA, GPD1L, GPIHBP1, HCN4, HRAS, JAG1, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LCAT, LDB3, LDLR, LDLRAP1, LIPA, LMF1, LMNA, LOX, LPL, LZTR1, MAP2K1, MAP2K2, MAT2A, MED12, MFAP5, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYOZ2, MYPN, NEXN, NF1, NKX2-5, NOTCH1, NRAS, PCSK9, PKP2, PLN, PLOD1, PPP1CB, PRDM5, PRKAG2, PRKG1, PTPN11, RAF1, RASA1, RBM20, RIT1, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SHOC2, SKI, SLC2A10, SLCO1B1, SMAD3, SMAD4, SNTA1, SOS1, SOS2, SPRED1, TAZ, TBX1, TBX20, TBX5, TCAP, TECRL, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TNXB, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL, ZNF469

Additional Information

  • A patient/client with a variant of unknown significance (DNA changes with limited and/or conflicting evidence regarding pathogenicity), can apply for follow-up testing for select family members at no additional charge in order to help understand  the relationship between the variant and the genetic condition
  • Extracted genomic DNA can also be submitted for sequencing, when it is isolated from a CLIA-certified laboratory or equivalent. Contact Merogenomics to discuss additional alternatives
  • Volume discounts are available. Contact Merogenomics for more details

 

Book your FREE 30-minute consultation. The link will take you to a booking calendar for the next available session. A consultation is highly recommended to provide appropriate client-informed consent prior to deciding upon any DNA testing. Payment does not occur until after the consultation and the signing of the requisition form by a medical doctor has been completed. For email inquiries, please use the Contact page.

START testing

 

 

 

Neurology Gene Panel

Gene panel sequencing is the process of decoding the order of nucleotide bases in the DNA of selected genes which are currently known to be associated with the health-impacting conditions being investigated. Variants (changes) observed in the DNA between different individuals afford insights into the variations in specific health conditions of interest that might affect the medical management of such individuals. Panels can range in the number of genes included, depending on the disease area being investigated. A neurology gene panel looks for DNA alterations in a select 196 genes validated to play a role in intellectual disability, autism spectrum disorder or epilepsy. Please expand the following sections for further details.

$399 USD

Canadian clients will be charged in Canadian dollars according to conversion rate of the current day. Volume discounts are available. Payment does not occur until after the consultation and the signing of the requisition form by a medical doctor has been completed.

Expand to see additional information

Test Description

  • Gene panel sequencing provides the overview of alterations in an individual’s DNA code in select genes related to neurological conditions  including epilepsy, as well as autism spectrum disorders and intellectual disability neurodevelopmental disorders
  • This test is used for clinical purposes and should not be regarded as investigational or for research
  • The test must be ordered by a medical doctor who will oversee the clinical report based on the DNA sequence interpretation
  • The test is for persons with a suspected genetic and undiagnosed condition, and is used when an unclear condition cannot readily be linked to a clinical diagnosis, or for patients with a clinical diagnosis requiring further refinement for personalized medical management based on genetic diagnosis
  • This test is not to diagnose neurocutenous disorders associated with brain tumors. Please  refer to the Cancer DNA Tests section for available test options
  • This test is not to diagnose any other inherited suspected genetic condition or to obtain pharmacogenetic information. Please  refer to the “Full Genome Sequencing” option below for a diagnostic test with the most comprehensive view of alterations in an individual’s DNA code, including pharmacogenetics information and secondary findings
  • Anonymized patient/client clinically-relevant information will be included in public databases to help with the future medical analysis of human genomes. Databases contain cumulative results from around the world and do not include information that can personally identify the patient/client
  • The test might not provide a diagnosis if either the causes of the condition are not genetic in nature, or the causative variant is not identified. Even with a successful DNA diagnosis, it is possible that the information might not help in predicting a prognosis or change medical management or the treatment of disease
  • The test can be paid for directly by the patient/client. Insurance billing is available and can be investigated up-front to determine out-of-pocket expenses. Institutional billing is also available for organizations that prefer to bill patients/clients directly

Test Deliverables

  • Merogenomics provides background education towards patient/client informed consent
  • The collection kit can be for a saliva or a blood sample, with prepaid shipping included
  • Services are fully insured, and are HIPAA, CLIA and CAP compliant
  • The results are available within 4-6 weeks. A selection of more targeted panels is available in 10-21 days
  • A concise clinical report is delivered to the ordering doctor only, and then subsequently discussed and shared with the patient/client. The report lists variants associated with an increased risk of neurological conditions with known genetic components
  • Previous medical information of the patient/client already collected by the ordering physician will be incorporated into the analysis
  • The databases used for DNA sequence interpretation are regularly updated, and novel findings pertaining to currently unknown variants identified in a patient/client  will be delivered to the ordering physician who will be continuously notified for the duration of the DNA data’s storage by the company

Test Benefits

  • To clarify or confirm a diagnosis to point to appropriate medical management such as tailored treatment options and avoid unnecessary and potentially invasive testing
  • To obtain an improved understanding of the prognosis and screening recommendations
  • One can potentially be released from unnecessary clinical surveillance
  • The discovery of a pathogenic variant (a DNA change that is capable of causing disease), in the patient/client allows for the screening of additional closely-related family members for the same pathogenic variant at no additional charge. Conditions may apply
  • Patient/client data is securely stored on cloud for subsequent re-analysis
  • The entire process closely follows the Canadian and American guidelines, therefore there is a high level of proper accountability for the clinic

Test Limitations

  • Biological sample quality can influence the scope and quality of the final decoded DNA sequence data, and therefore its interpretation
  • FMR1 repeat expansion testing and Angelman/Prader-Willi methylation analysis are not included as part of the gene panel, but can be ordered concurrently
  • If a new gene or variant is added to a panel, the previous information cannot be updated for that particular gene or variant if the patient/client has not been tested for it in the first place. Therefore to capture any novel DNA sequence information, the patient/client would have to retake the test
  • It is possible that previously unidentified variants with clinical implications might be present in the selected genes that are not investigated by the test due to incomplete DNA sequence analysis, therefore a negative result cannot rule out the possibility that the patient carries an unexamined mutation
  • False positive results can occur and all clinically relevant identified alterations are recommended to be validated by separate technology
  • The test does not detect alterations which are not caused by a change in the DNA sequence, such as gene expression, epigenetic modifications, fusion, or chromosome conformational changes
  • The interpretation will be limited to the current state of scientific knowledge of how DNA changes lead to a disease. This scientific knowledge can also contain mistakes
  • Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances. Cultured fibroblasts will be required instead
  • Psychological consequences can be severe with high risk individuals and patients/clients should be screened prior to testing
  • The test does not consider somatic alterations (non-inherited DNA changes acquired post-birth throughout one’s lifetime)
  • The test has not been cleared or approved by the US Food and Drug Administration. The FDA does not require this test to go through a premarket FDA review

Ordering Physician Information

  • All tests offered through Merogenomics require a physician to sign a test requisition for regulatory compliance reasons. Once the requisition form is signed by the doctor, the ordering doctor does not have to participate in the process until the receipt of the test results
  • Merogenomics can provide detailed background information to the ordering physician about the test process. Merogenomics also provides additional education towards patient/client informed consent
  • Sequencing guidelines recommend chromosomal microarray as the first-tier for genetic testing for autism spectrum disorders as well as for intellectual disabilities, with a fragile X syndrome DNA analysis as a test-along option. Contact Merogenomics for test access
  • FMR1 repeat expansion testing and Angelman/Prader-Willi methylation analysis are not included as part of the gene panel and must be ordered separately
  • In case of a clear diagnosis, more targeted panels are available as a first-tier gene panel approach to reduce the chance of secondary or uncertain findings, which can be followed by specified reflex options
  • Chromosomal microarray with whole exome sequencing, or full genome sequencing without microarray, can be selected instead of gene panel testing to increase detection rates
  • The test results should be interpreted in context with any other available patient/client clinical findings
  • It is recommended by sequencing guidelines that the patient/client undergoes genetic counseling prior and after clinical DNA testing
  • The DNA sequencing and interpretation takes place in a CLIA/CAP certified laboratory
  • Patient data is HIPAA compliant, securely stored on cloud for continuous re-analysis, and never sold or shared with third-party companies
  • The ordering physician will be the recipient of the gene panel sequencing analysis clinical report. The patient/client will not obtain these results independent of the ordering physician. Merogenomics will not have access to the patient/client report, but can review the report after the receipt of the data if requested by the patient/client
  • The report is designed with doctors in mind and will be divided into the following sections:
    • The first page will have condensed summary listing all of the clinically relevant results and will be listed as follows:
      • Pathogenic or likely pathogenic results – the information requiring the utmost attention spanning the entire genome
      • Variants of unknown significance – DNA changes currently without evidence of clinical impacts
      • Structural variants – large scale DNA changes such as gross deletions or duplications
      • A summary of the results and their interpretation
      • A list of the genes analyzed in the panel
    • The final pages are devoted to the methods of testing and the limitations of the procedure
  • Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances
  • For cancer patients undergoing chemotherapy treatment, the DNA quality may be affected if the patient has received treatment in the past 120 days, potentially requiring sample resubmission

Technical Information

  • Targeted sequence enrichment is performed using PCR. Either next-generation sequencing or Sanger sequencing of all exons (the gene section that is the code for protein development), and flanking regions of 5’ and 3’ ends of all the introns and untranslated regions and promoter regions of select genes (the DNA regions involved in gene use regulation), is completed
  • This test offers over 99.9% sensitivity
  • Proprietary methods identify and analyze the following types of variants:
    • Small sequence changes:
      • Single nucleotide variants (SNVs, alterations that affect only one nucleotide at a time, also termed single nucleotide polymorphisms or SNPs)
      • Insertions and deletions (indels under 50 bp)
    • Structural variants (DNA alterations that affect large segments of DNA of more than 50 bp, and can include insertions, deletions, or copy number variations or CNVs: the duplication of a particular DNA segment)
  • Identification of structural variants in selected genes are confirmed with multiplex ligation-dependent probe amplification and/or targeted chromosomal microarray
  • For clinical genes with related pseudogenes, sequencing is performed to confirm mutation presence in the gene of interest and not in the pseudogene
  • Genes investigated: ABCD1, ACSL4, ADNP, ALDH7A1, ALG13, ANKRD11, AP1S2, AP4B1, ARHGEF9, ARID1B, ARX, ATP13A2, ATP1A2, ATP7A, ATRX, BRWD3, CA8, CACNA1A, CACNA1C, CASK, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CRH, CSTB, CTCF, CTSD, CTSF, CUL4B, DCX, DDX3X, DEPDC5, DHCR7, DLG3, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HDAC8, HNRNPU, HOXA1, HPRT1, HUWE1, IDS, IQSEC2, KAT6A, KATNAL2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1A, L1CAM, LAMP2, LGI1, LINS, MAN1B1, MAOA, MBD5, MECP2, MED12, MED23, MEF2C, MFSD8, MID1, NDP, NDUFA1, NHLRC1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAK3, PCDH19, PDHA1, PHF6, PHF8, PIGA, PIGN, PLCB1, PLP1, PNKP, PNPO, POGZ, POLG, PORCN, PPT1, PQBP1, PRICKLE1, PRRT2, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RPL10, RPS6KA3, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SHANK3, SIK1, SLC13A5, SLC16A2, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TBR1, TCF4, TIMM8A, TPP1, TRAPPC9, TSC1, TSC2, TUSC3, UBE2A, UBE3A, UPF3B, VPS13B, WDR45, ZC4H2, ZEB2

Additional Information

  • A patient/client with a variant of unknown significance (DNA changes with limited and/or conflicting evidence regarding pathogenicity), can apply for follow-up testing for select family members at no additional charge in order to help understand the relationship between the variant and the genetic condition. Parental samples can be submitted up-front with the patient/client sample for increased efficiency
  • Extracted genomic DNA can also be submitted for sequencing, when it is isolated from a CLIA-certified laboratory or equivalent. Contact Merogenomics to discuss additional alternatives
  • Volume discounts are available. Contact Merogenomics for more details

 

Book your FREE 30-minute consultation. The link will take you to a booking calendar for the next available session. A consultation is highly recommended to provide appropriate client-informed consent prior to deciding upon any DNA testing. Payment does not occur until after the consultation and the signing of the requisition form by a medical doctor has been completed. For email inquiries, please use the Contact page.

START testing

 

 

 

Trio Exome Sequencing

Exome sequencing is the process of decoding the order of nucleotide bases in the DNA of all of the genes in the human genome (this is less than 2% of the genome, but contains most of the known disease-causing variants), and is the most comprehensive gene panel. Variants (changes) observed in the DNA between different individuals afford insights into the variation in the specific traits of these individuals. As some traits have an impact on human health, exome sequencing can provide valuable information about human disease that is currently unobtainable or very challenging to obtain by other standard medical means, including more targeted genetic testing. Please expand the following sections for further details.

$3,770 USD

Canadian clients will be charged in Canadian dollars according to conversion rate of the current day. Volume discounts are available. Payment does not occur until after the consultation and the signing of the requisition form by a medical doctor has been completed.

Expand to see additional information

Test Description

  • Trio exome sequencing provides the overview of alterations in an individual’s DNA code in all of the genes found in the human genome for the affected individual (proband), as well as both of the biological parents of the proband. An accurate assignment of family relationships is necessary for the successful analysis of the family trio exome sequencing. The trio test option provides  more than 2x higher detection rates than a test for the proband patient only
  • This test is used for clinical purposes and should not be regarded as investigational or for research
  • The test must be ordered by a medical doctor who will oversee the clinical report based on the DNA sequence interpretation
  • The test is for persons with a suspected genetic and undiagnosed condition, and is used when an unclear condition cannot readily be linked to a clinical diagnosis due to:
    • Failure of prior testing to identify a genetic explanation
    • A lack of testing available for the presented conditions
    • Clinical presentation cannot be matched to a known genetic disorder
    • Multiple genes may be responsible for the condition
  • The purpose of the test is to determine if a genetic diagnosis can be uncovered, leading to a condition diagnosis and potential medical management changes
  • Suspected conditions compatible with full genome sequencing include:
    • Brain malformations
    • Congenital heart defects and cardiomyopathies
    • Epilepsy disorders
    • Mitochondrial disorders
    • Movement disorders
    • Neurodegenerative and neurodevelopmental disorders
    • Neuromuscular disorders
    • Neuropathies
    • Ophthalmology and hearing loss disorders
    • Skeletal disorders
    • Sex development disorders
  • This test does not provide secondary findings unrelated to the condition being diagnosed unless further requested by the ordering physician. This test does not provide pharmacogenetic information. Please refer to the “Full genome sequencing” option below for a diagnostic test with the most comprehensive view of alterations in an individual’s DNA code, including pharmacogenetics information and secondary findings
  • This test does not provide information on traits that are not medically relevant, such as eye color, fitness performance, and tasting. The test does not analyze ancestry. The patient/client will always have the option of analyzing their DNA for any additional purposes by an independent third-party. Merogenomics recommends checking the quality of any company prior to submitting the DNA for such additional analysis, and to determine whether there is scientific validity behind the information being investigated
  • This test is not for individuals interested in proactively screening themselves for health predispositions and drug responses. Please  refer to the DNA Tests for Health Risks section for a screening test for otherwise presumed healthy individuals
  • Anonymized patient/client clinically-relevant information will be included in public databases to help with the future medical analysis of human genomes. Databases contain cumulative results from around the world and do not include information that can personally identify the patient/client
  • The test might not provide a diagnosis if either the causes of the condition are not genetic in nature, or the causative variant is not identified. Even with a successful DNA diagnosis, it is possible that the information might not help in predicting a prognosis or change medical management or the treatment of the disease
  • The test can be paid for directly by the patient/client. Insurance billing is available and can be investigated up-front to determine out-of-pocket expenses. Institutional billing is also available for organizations that prefer to bill patients/clients directly

Test Deliverables

  • Merogenomics provides background education towards patient/client informed consent
  • The collection kit can be for a saliva or a blood sample, with prepaid shipping included
  • Services are fully insured, and are HIPAA, CLIA and CAP compliant
  • The test will provide the DNA code of nearly the entire exome (all of the genes in the human genome, or about 2% of  the genome), using the current best sequencing systems, stored on cloud for the patient/client by the company
  • The results are available within 6-8 weeks
  • A concise clinical report signed by a medical geneticist is delivered to the ordering doctor only, and then subsequently discussed and shared with the patient/client
  • The report will include primary findings that are directly related to the cause of the disease for the patient. No further analysis of the exome is done
  • Secondary findings unrelated to the medical condition but which might impact patient health can be reported for the patient if requested. It includes findings in a set of 59 genes as recommended by the American College of Medical Geneticists (ACMG) for incidental findings. This is a list of genes that are linked to the development of different diseases for which intervention or disease treatment options are available
  • The decoding and interpretation of the exome is done utilizing industry gold-standard tools and databases, which also include proprietary systems developed in-house – one of the key determining factors of test quality for medical use
  • Previous medical information of the patient/client already collected by  the ordering physician will be incorporated into the analysis
  • Follow-up management will be suggested based on the patient’s diagnosis and available medical history
  • Complimentary re-analysis of exome sequencing data is available any time the patient presents with a new phenotype or one time upon request by the ordering physician (recommended at least one year after the original report has been issued). Amended reports are issued based on new findings. Data re-analysis may require up to 8 weeks
  • The databases used for DNA sequence interpretation are regularly updated, and novel findings pertaining to currently unknown variants identified in a patient/client  will be delivered to the ordering physician, who will be continuously notified for the duration of the DNA data’s storage by the company

Test Benefits

  • Obtain or confirm a diagnosis when other standard testing methods fail to provide a clear answer. Diagnosis is made for DNA variants considered strong causal candidates for a genetic disorder, or variants associated with increased disease risk. Studies show that the sequencing approach often leads to a diagnosis more quickly and with lower overall costs than other methods, with exome sequencing being 2-3 times more likely to identify the underlying cause of a patient’s genetic disease than traditional approaches
  • The diagnosis can provide the possibility of guiding or influencing medical care management as follows:
    • Treatment of the already existing condition
    • Intervention to prevent worsening of the condition from developing
    • The potential to be released from unnecessary clinical surveillance, including potentially invasive diagnostic procedures
    • Preparation for the outcomes, whether through education or by seeking clinical trials
  • The diagnosis might influence the considerations of additional family members regarding testing, or affect reproductive decisions to avoid passing the same DNA alterations to future offspring
  • Patient/client data is securely stored on cloud for subsequent re-analysis. Data is never sold, or shared with any third-parties unless specifically requested by the patient/client. Such data sharing will require a separate consent form to be signed by the patient/client in addition to the one that is signed to obtain the test
  • The entire process closely follows the Canadian and American guidelines, therefore there is a high level of proper accountability for the clinic
  • Diagnostic success rate up to nearly 40%

Test Limitations

  • Biological sample quality can influence the scope and quality of the final decoded DNA sequence data, and therefore its interpretation
  • It is never possible to guarantee that every DNA change in the exome will be found, therefore a negative result cannot rule out the possibility that the patient carries an unexamined mutation
  • Certain alterations/variants might not be identified due to the presence of highly homologous pseudogenes (inactive genes that are highly similar in sequence to active genes), or other confounding factors such as bone marrow transplantation, a blood transfusion or mosaicism (the presence of different variants in a subset of cells in an individual)
  • The limitations of the sequencing technology does not allow for the uncovering of large structural changes within the exome, and might require additional technologies in order to be achieved. Exome sequencing typically focuses on the small sequence alterations and might have a limited scope in the analysis of the gross alterations (such as a segment of a chromosome inverting or moving to a new location)
  • False positive results can occur and all clinically relevant identified alterations are recommended to be validated by separate technology
  • Each patient/client will present their own unique read depth distribution across the exome. About 5% of the exome will be sequenced with a read depth considered not sufficient enough to make a statistically confident call about the observed DNA sequence
  • The test does not detect alterations which are not caused by a change in the DNA sequence, such as gene expression, epigenetic modifications, fusion, chromosome conformational changes, X-linked recessive mutations in females who manifest disease due to skewed X-inactivation
  • The interpretation will be limited to the current state of scientific knowledge of how DNA changes lead to a disease. This scientific knowledge can also contain mistakes
  • Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplantion.  A history of hematological disease might exclude test availability in certain circumstances. Contact Merogenomics to discuss potential alternatives
  • Psychological consequences can be severe with high risk individuals  and patients/clients should be screened prior to testing
  • The test does not consider somatic alterations (non-inherited DNA changes acquired post-birth throughout one’s lifetime)
  • The test has not been cleared or approved by the US Food and Drug Administration. The FDA does not require this test to go through a premarket FDA review

Ordering Physician Information

  • All tests offered through Merogenomics require a physician to sign a test requisition for regulatory compliance reasons. Once the requisition form is signed by the doctor, the ordering doctor does not have to participate in the process until the receipt of the test results
  • Merogenomics can provide detailed background information to the ordering physician about the test process. Merogenomics also provides additional education towards patient/client informed consent
  • The test is for persons with a suspected genetic and undiagnosed condition, and is used when an unclear condition cannot readily be linked to a clinical diagnosis. The purpose of the test is to determine if a genetic diagnosis can be uncovered, leading to a condition diagnosis and potential medical management changes. For individuals interested in proactively screening themselves for health predispositions and drug responses, please  refer to “Population Screening for Disease Risk”
  • Suspected conditions compatible with full genome sequencing include:
    • Brain malformations
    • Congenital heart defects and cardiomyopathies
    • Epilepsy disorders
    • Mitochondrial disorders
    • Movement disorders
    • Neurodegenerative and neurodevelopmental disorders
    • Neuromuscular disorders
    • Neuropathies
    • Ophthalmology and hearing loss disorders
    • Skeletal disorders
    • Sex development disorders
  • In the case of a clear diagnosis, more targeted panels are available as a first-tier approach to reduce the chance of secondary or uncertain findings
  • The test results should be interpreted in context with any other available patient/client clinical findings
  • It is recommended by sequencing guidelines that the patient/client undergoes genetic counseling prior to and after clinical DNA testing
  • The DNA sequencing and interpretation takes place in a CLIA/CAP certified laboratory
  • Patient data is HIPAA compliant, securely stored on cloud for continuous re-analysis, and never sold or shared with third-party companies
  • The ordering physician will be the recipient of the exome sequencing analysis clinical report. The patient/client will not obtain these results independent of the ordering physician. Merogenomics will not have access to the patient/client report, but can review the report after the receipt of the data if requested by the patient/client
  • The report is designed with doctors in mind and will be divided into the following sections:
    • The first page will have a condensed summary listing all of the clinically relevant results which will be as follows:
      • Pathogenic or likely pathogenic results – the information requiring the utmost attention spanning the entire genome
      • ACMG 59 status – the 59 genes tied to clinical conditions which are the most strongly recommended by the American College of Medical Genetics and Genomics guidelines to be reported to patients if they are affected and they should be requested to be analyzed
      • Variants of unknown significance – DNA changes currently without evidence of clinical impact
      • Structural variants – large scale DNA changes such as gross deletions or duplications
      • The summary of the results and their interpretation
      • A list of the genes analyzed in the panel
    • The final pages are devoted to the methods of testing and the limitations of the procedure
  • Automated periodic reanalysis of unsolved cases. The ordering physician is notified if any new findings related to the case arise
  • Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances
  • For cancer patients undergoing chemotherapy treatment, the DNA quality may be affected if the patient has received treatment in the past 120 days, potentially requiring sample resubmission

Technical Information

  • The DNA sample is prepared using IDT xGen Exome Panel hybridization capture PCR-amplified Library and sequenced using Illumina HiSeq or NextSeq System at 2X150 read length, with  >95% of the exome mappable coverage at >20X, and ~92% of characterized Mendelian disease genes fully covered at >20X
  • State of the art bioinformatics tools are used for alignment and variant calling
  • Proprietary methods identify and analyze the following types of variants:
    • Small sequence changes:
      • Single nucleotide variants (SNVs, alterations that affect only one nucleotide at a time, also termed single nucleotide polymorphisms or SNPs)
      • Insertions and deletions (indels under 50 bp)
    • Variants are classified as pathogenic, likely pathogenic, or of unknown significance according to the established guidelines by the American College of Medical Genetics and Genomics /Association for Molecular Pathology from 2015 (Richards S et al. 2015. Genet Med 17(5): 405–424)
    • Best-in-class public and commercial databases and tools used for annotations: HGMD, dbSNP, 1000 Genomes Project, HapMap data and an online search engine

Additional Information

  • Expedited results are available within 8-14 days for an additional cost
  • A companion chromosomal microarray test can be added for an additional cost to help identify structural variants (DNA alterations that affect large segments of DNA of more than 50 bp, and can include insertions, deletions, or copy number variations or CNVs: the duplication of a particular DNA segment), that are not captured by the exome sequencing test
  • Companion mitochondrial DNA analysis can be added for an additional cost
  • The samples of first-degree relatives can be used if biological parent samples cannot be available
  • A patient/client with a variant of unknown significance (DNA changes with limited and/or conflicting evidence regarding pathogenicity), can apply for follow-up testing for select family members at no additional charge in order to help understand  the relationship between the variant and the genetic condition
  • Volume discounts are available. Contact Merogenomics for more details
  • Exome sequencing raw data (FASTQ, BAM and/or VCF), can only be requested without analysis, with or without a filtered variant list. Contact Merogenomics for more details
  • Extracted genomic DNA can also be submitted for sequencing, when it is isolated from a CLIA-certified laboratory or equivalent. Contact Merogenomics to discuss additional alternatives

 

Book your FREE 30-minute consultation. The link will take you to a booking calendar for the next available session. A consultation is highly recommended to provide appropriate client-informed consent prior to deciding upon any DNA testing. Payment does not occur until after the consultation and the signing of the requisition form by a medical doctor has been completed. For email inquiries, please use the Contact page.

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Full Genome Sequencing

Human genome sequencing is the process of decoding the order of nucleotide bases in the entire human DNA to gain information of interest. Variations observed in the DNA between different individuals afford insight into the variation in specific traits of these individuals. As some traits have an impact on human health, genome sequencing can provide valuable information about human disease that is currently unobtainable or very challenging to obtain by other standard medical means. Please expand the following sections for further details.

$2,819 USD

Canadian clients will be charged in Canadian dollars according to conversion rate of the current day. Volume discounts are available. Payment does not occur until after the consultation and the signing of the requisition form by a medical doctor has been completed.

Expand to see additional information

Test Description

  • Whole genome sequencing (including nuclear and mitochondrial DNA), provides the most comprehensive view of alterations in an individual’s DNA code
  • This test is used for clinical purposes and should not be regarded as investigational or for research
  • The test must be ordered by a medical doctor who will overview the clinical report based on the DNA sequence interpretation
  • The test is for persons with a suspected genetic and undiagnosed condition and is used when an unclear condition cannot readily be linked to a clinical diagnosis due to:
    • The failure of prior testing to identify a genetic explanation
    • No other testing being available for the presented conditions
    • The clinical presentation cannot be matched to a known genetic disorder
    • Multiple genes may be responsible for the condition
  • The purpose of the test is to determine if a genetic diagnosis can be uncovered, leading to a condition diagnosis and potential medical management changes
  • Suspected conditions compatible with full genome sequencing include:
    • Brain malformations
    • Congenital heart defects and cardiomyopathies
    • Epilepsy disorders
    • Mitochondrial disorders
    • Movement disorders
    • Neurodegenerative and neurodevelopmental disorders
    • Neuromuscular disorders
    • Neuropathies
    • Ophthalmology and hearing loss disorders
    • Skeletal disorders
    • Sex development disorders
  • This test is not for individuals interested in proactively screening themselves for health predispositions and drug responses. Please  refer to the DNA Tests for Health Risk section for a screening test for otherwise presumed healthy individuals
  • Anonymized patient/client clinically-relevant information will be included in public databases to help with the future medical analysis of human genomes. Databases contain cumulative results from around the world and do not include information that can personally identify the patient/client
  • This test only provides diagnosis results relevant to the condition attempting to be diagnosed. The test does not provide secondary findings or pharmacogenomic findings unless further requested by the ordering physician. This test does not provide information on traits that are not medically relevant, such as eye color, fitness performance, and tasting. The test does not analyze ancestry. The patient/client will always have the option of analyzing their DNA for any additional purposes by an independent third-party. Merogenomics recommends checking the quality of any company prior to submitting the DNA for such additional analysis, and confirming whether there is scientific validity behind the information being investigated
  • The test might not provide a diagnosis if either the causes of the condition are not genetic in nature, or the causative variant is not identified. Even with a successful DNA diagnosis, it is possible that the information might not help in predicting a prognosis or change medical management or the treatment of the disease
  • The test can be paid for directly by the patient/client. Interest-free payment plans are available. Insurance billing is available and can be investigated up-front to determine out-of-pocket expenses. A patient assistance program is available for patients meeting income criteria. Institutional billing is also available for organizations that prefer to bill patients/clients directly

Test Deliverables

  • Merogenomics provides background education towards patient/client informed consent
  • The collection kit can be for a saliva or a blood sample, with prepaid shipping included
  • Services are fully insured, and are HIPAA, CLIA and CAP compliant
  • The test will provide the DNA code of nearly the entire genome using the current best sequencing systems, stored on cloud for the patient/client by the company
  • The results are available within 8 weeks
  • A concise clinical report signed by a medical geneticist is delivered to the ordering doctor only, and then subsequently discussed and shared with the patient/client
  • The report will include primary findings that are directly related to the cause of the disease for the patient. No further analysis of the genome is done
  • Secondary findings unrelated to the medical condition but which might impact the patient’s health can be reported for the patient if requested. It includes findings in a set of 59 genes as recommended by the American College of Medical Geneticists (ACMG) for incidental findings. This is a list of genes that are linked to different disease developments for which intervention or disease treatment options are available
  • Pharmacogenomic information could be applied if the disease area is provided with a list of drugs
  • The decoding and interpretation of the genome is done utilizing industry gold-standard tools and databases, which also include proprietary systems developed in-house – one of the key determining factors of test quality for medical use
  • Board-certified medical geneticists will work with the ordering physician to provide a collaborative diagnosis, so that doctors can be as involved in the process as desired
  • The ordering doctor will obtain their own personal login to the diagnostic web console in order to have direct access to all of the data, including any preliminary findings requiring immediate attention
  • Previous medical information of the patient/client already collected by  the ordering physician will be incorporated into the analysis
  • Follow-up management will be suggested based on the patient’s diagnosis and available medical history
  • The genome sequence can be re-analyzed in the future using in-silico panels of selected genes (based on the list of suspected phenotypes/diseases), to obtain additional diagnoses if new symptoms appear in the patient. This allows for the incorporation of novel patient medical information and the latest scientific interpretation
  • If the diagnosis is not made, the company will periodically re-analyze the genome data (based on a pre-defined schedule or clinical databases update), and automatically alert the doctor if relevant new findings arise
  • If the diagnosis is not made, sequencing of additional family members can be considered to aid in the identification of the DNA change leading to the medical condition. Such comparisons of genomic data between family members can make the diagnosis easier, although patient genome sequencing alone is usually enough. Please see the section titled “Additional Options” for cost information
  • The genome sequence can be provided to the patient/client upon request using a secure FTP server download
  • Testing is usually done with children with up to a 50% success rate

Test Benefits

  • To obtain a diagnosis when other standard testing methods fail to provide a clear answer. A diagnosis is made for DNA variants considered strong causal candidates for a genetic disorder, variants associated with increased disease risks, or variants involved in drug dosing and/or drug toxicity for certain medications. Studies show that the sequencing approach often leads to a diagnosis more quickly and with lower overall costs than other methods.
  • The diagnosis can provide the possibility of guiding or influencing medical care management as follows:
    • Treatment of the already existing condition
    • One can potentially be released from unnecessary clinical surveillance, including potentially invasive diagnostic procedures
    • Intervention to prevent worsening of the condition from developing
    • Preparation for the outcomes, whether through education or by seeking clinical trials
  • The diagnosis might influence the considerations of additional family members regarding testing, or affect reproductive decisions to avoid passing the same DNA alterations to future offspring
  • Only a single whole genome sequencing test is required for an individual. The complete sequence information captured in the test allows for an unlimited number of future data reanalysis as more scientific evidence is uncovered, or as new health symptoms materialize, so it provides the best ROI for the investment made. Whole genome sequencing captures small sequence changes, structural variants, tandem repeat expansions and mitochondrial variants, both in the coding and non-coding regions, all in a single test
  • Patient/client data is securely stored on cloud for subsequent re-analysis. Data is never sold, or shared with any third-parties unless specifically requested by patient/client. Such data sharing will require a separate consent form to be signed by the patient/client in addition to the one that is signed to obtain the test
  • The entire process closely follows the Canadian and American guidelines, therefore there is a high level of proper accountability for the clinic

Test Limitations

  • The “entire genome sequence” refers to the current feasibility of technology, as an entire genome is actually not decoded because no technology exists to be able to sequence the full human reference genome. It is not known how much of the human genome remains undiscovered, but estimates range between 2-8%. In addition, the current technologies generate data that typically includes over 98.5% of the known human genome
  • Biological sample quality can influence the scope and quality of the final decoded DNA sequence data, and therefore its interpretation
  • It is never possible to guarantee that every DNA change in the genome will be found, therefore a negative result cannot rule out the possibility that the patient carries an unexamined mutation
  • Certain alterations or variants might not be identified due to the presence of highly homologous pseudogenes (the presence of inactive genes that are highly similar in sequence to active genes), or other confounding factors such as bone marrow transplantation, blood transfusion, or mosaicism (the presence of different variants in a subset of cells in an individual)
  • The limitations of the sequencing technology might not allow for the complete uncovering of large structural changes within the genome, and might require additional technologies in order to be achieved. Genome sequencing typically focuses on the small sequence alterations and might have a limited scope in the analysis of the gross alterations (such as a segment of a chromosome inverting or moving to a new location)
  • False positive results can occur and all clinically relevant identified alterations are recommended to be validated by separate technology
  • The average genome read depth is 30X, but such read depth cannot cover the entire genome. Each patient will present their own unique read depth distribution across the genome. About 0.5% of the genome will be sequenced with a read depth of less than 8X, which is the minimum that is considered high enough to make a statistically confident call about the observed DNA sequence
  • The test does not detect alterations which are not caused by a change in the DNA sequence, such as gene expression, epigenetic modifications, fusion, chromosome conformational changes, or X-linked recessive mutations in females who manifest disease due to skewed X-inactivation
  • The interpretation will be limited to the current state of scientific knowledge of how DNA changes lead to a disease. This scientific knowledge can also contain mistakes
  • Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances. Contact Merogenomics to discuss potential alternatives
  • Psychological consequences can be severe with high risk individuals and patients/clients should be screened prior to testing
  • The test does not consider somatic alterations (non-inherited DNA changes acquired post-birth throughout one’s lifetime)
  • The test has not been cleared or approved by the US Food and Drug Administration. The FDA does not require this test to go through a premarket FDA review

Ordering Physician Information

  • All tests offered through Merogenomics require a physician to sign a test requisition form for regulatory compliance reasons. Once the requisition form is signed by the doctor, the ordering doctor does not have to participate in the process until the receipt of the test results
  • Merogenomics can provide detailed background information to the ordering physician on the test process. Merogenomics also provides additional education towards patient/client informed consent
  • The test is for persons with a suspected genetic and undiagnosed condition, and is used when an unclear condition cannot readily be linked to a clinical diagnosis. The purpose of the test is to determine if a genetic diagnosis can be uncovered, leading to a condition diagnosis and potential medical management changes. For individuals interested in proactively screening themselves for health predispositions and drug responses, please  refer to the “Population Screening for Disease Risk” section
  • Suspected conditions compatible with full genome sequencing include:
    • Brain malformations
    • Congenital heart defects and cardiomyopathies
    • Epilepsy disorders
    • Mitochondrial disorders
    • Movement disorders
    • Neurodegenerative and neurodevelopmental disorders
    • Neuromuscular disorders
    • Neuropathies
    • Ophthalmology and hearing loss disorders
    • Skeletal disorders
    • Sex development disorders
  • It is recommended by sequencing guidelines that the patient/client undergoes genetic counseling prior to and after clinical DNA testing
  • The DNA sequencing takes place in a CLIA/CAP certified laboratory with subsequent DNA data interpretation performed in an additional CLIA certified laboratory. The interpretation of the DNA data is based on public and private databases of clinical past observations. The final results are overseen and signed by a board-certified medical geneticist prior to delivery to the doctor. This provides one of the highest levels of regulatory oversight towards the generation of clinically meaningful genomic results for patient medical management
  • Patient data is HIPAA compliant, securely stored on cloud for continuous re-analysis, and never sold or shared with third-party companies
  • The ordering physician will obtain access to the data with an easy-to-use web console during and post genome sequencing with all of the clinically relevant results. Merogenomics can offer an explanation of the web console use. Merogenomics will not have access to the patient/client data using the web console
  • Proprietary gene selection based on disease phenotypes (using HPO nomenclature), is used to help determine a diagnosis
  • The ordering physician will be the recipient of the genome sequencing analysis clinical report. The patient/client will not obtain these results independent of the ordering physician. The patient will likewise not gain access to the web-based portal or the final report. Therefore the ordering physician will be providing the information contained in the report to the patient/client. Merogenomics will not have access to the patient/client report, but can review the report after the receipt of the data if requested by the patient/client
  • The report is designed with doctors in mind and will be divided into the following sections:
    • The first page will have a condensed summary listing all of the clinically relevant results ordered into sections:
      • Pathogenic or likely pathogenic results – the information requiring the utmost attention spanning the entire genome
      • ACMG 59 status – the 59 genes tied to the clinical conditions that are the most strongly recommended by the American College of Medical Genetics and Genomics guidelines to be reported to patients if they are affected and should be requested to be analyzed
      • Other – mitochondrial or structural variants. Structural variants are alterations of the genome involving large segments of DNA
      • Follow-up recommendations
    • The second page will list details about each of the mutations and the corresponding condition
    • The final pages are devoted to the methods of testing and the limitations of the procedure
    • Pharmacogenetic results are provided in an independent report if requested by the ordering physician, and are provided only for the list of medications submitted for analysis. This information relates to drug response and/or toxicity based on public databases listing clinically valid results
  • The service provider’s board-certified medical geneticists can provide a second opinion concerning medical management
  • There is an automated periodic reanalysis of unsolved cases. The ordering physician is notified if any new findings related to the case arise
  • Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances
  • For cancer patients undergoing chemotherapy treatment, the DNA quality may be affected if the patient has received treatment in the past 120 days, potentially requiring sample resubmission

Technical Information

  • The DNA sample is prepared using TrueSeq PCR-Free Library and is sequenced using Illumina HiSeq X Ten System at 30X mean mappable coverage with an average of 5% of the genome covered at ≥20X, with 97.3% of the genome covered at ≥8x and 99.4% of HGMD and ClinVar annotated variants covered at ≥8x
  • The test offers95% sensitivity, 99.99955% specificity and 99.6% positive predictive value for SNVs. 97.9%, 96.0% and 95.2% sensitivity for indels of 1-5, 6-15 and 16-50 nucleotides respectively. 96% clinical sensitivity for structural variants
  • Extracted genomic DNA can also be submitted for sequencing, if it has been isolated from a CLIA-certified laboratory or equivalent
  • State of the art bioinformatics tools are used based on the Broad Institute’s gold-standard and best practices for alignment and variant calling
  • Extensive data quality control is utilized: mapped read percentage, percentage of properly paired reads versus failed reads and duplicate reads, coverage statistics, gender and pedigree concordance
  • Proprietary methods identify and analyze four types of variants:
    • Small sequence changes
      • Single nucleotide variants (SNVs, alterations that affect only one nucleotide at a time, also termed single nucleotide polymorphisms or SNPs)
      • Insertions and deletions (indels under 50 bp)
    • Structural variants (DNA alterations that affect large segments of DNA of more than 50 bp, and can include insertions, deletions, inversions, breakpoints or copy number variations or CNVs: the duplication of a particular DNA segment)
    • Trinucleotide repeat expansions (repetition of a small DNA segment)
    • Mitochondrial variants
  • Variants are classified as pathogenic, likely pathogenic, or of unknown significance according to the established guidelines by the American College of Medical Genetics and Genomics /Association for Molecular Pathology from 2015 (Richards S et al. 2015. Genet Med 17(5): 405–424)
  • Structural variants larger than 3 Mbp in size are reported. Smaller structural variants are reported only when pathogenic or are likely pathogenic and related to the patient/client’s phenotype
  • Mitochondrial DNA includes sequence variants and indels under 20 bp only. Heteroplasmy (the presence of more than one type of mitochondrial genome), is reported to the level of ≥4%
  • Clinically relevant short tandem repeat expansions are reported for >20 known pathogenic loci without identifying a specific repeat number
  • Best-in-class public and commercial databases and tools used for annotations:
    • Disease association: HGMD Professional, Genome Trax, ClinVar, OMIM, Orphanet, Gene Tests
    • Population frequencies: gnomAD, dbSNP, ensemble, 1000 Genomes Project, ExAC, NHLBI Exome Sequencing Project and service provider proprietary database
    • Severity prediction: SIFT, MutationAssessor, MutationTaster, GWAVA, PolyPhen2, FATHMM, LRT
    • Conservation prediction: SiPhy, GERP++, PhyloP, PhastCons
    • Gene essentiality: according to Georgi B et al. 2013. PLoS Genet 9(5):e1003484
    • Gene tolerance: RVIS score according to Petrovski S et al. 2013. PLoS Genet 9(8):e1003709
  • Customizable medico-legal documentation can be provided and include: electronic patient questionnaire, patient informed consent, physician disclaimer, research and clinical use documentation, and territory specific materials

Additional Information

  • Expedited results are available within 4 weeks for an additional cost
  • Family trio (two parents and an offspring), is a sequencing option available at $5,597 USD. An accurate assignment of family relationships is necessary for a successful analysis of the family trio full genome sequencing. The biological relationships between submitted family samples will be assessed to ensure that the parental relations were correctly identified. If a discrepancy is identified, the ordering physician will be notified and the sequencing of the parental samples will be cancelled
  • Access to a genetic counselor is available before and/or after the receipt of the test results for an additional cost. This is highly recommended, especially after the results are received
  • All pathogenic or likely pathogenic results can be verified by separate independent Sanger sequencing technology for an additional cost
  • The DNA sequence data is available for download by the paying client using a secure web portal at no extra cost. The file format is available either as FASTQ/BAM (the entire sequence data from the patient’s submitted sample), or as a VCF file (a list of variants that differ from the human genome reference that was used for the alignment of the client genome data)
  • Extracted genomic DNA can also be submitted for sequencing, when it is isolated from a CLIA-certified laboratory or equivalent. Contact Merogenomics to discuss additional alternatives
  • Volume discounts are available starting with a minimum of five samples. Contact Merogenomics for more details

 

Book your FREE 30-minute consultation. The link will take you to a booking calendar for the next available session. A consultation is highly recommended to provide appropriate client-informed consent prior to deciding upon any DNA testing. Payment does not occur until after the consultation and the signing of the requisition form by a medical doctor has been completed. For email inquiries, please use the Contact page.

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FREE Full Genome Sequencing

This is the same test as the “Full genome sequencing” option listed above, but is subsidized as part of the equitable healthcare access program. Please view the above tabs for test details. One test recipient suffering from an undiagnosed condition of suspected genetic origin is chosen each month to help those in dire need that otherwise might not be able to take advantage of the diagnostic power of full genome sequencing. The treating/family physician of the patient is required to submit an application for testing, and all of the submitted cases are reviewed on a quarterly basis. The ordering clinician will be notified as to whether or not the case is accepted. No payment is collected for patients that are accepted into this program. 

Book your FREE 30-minute consultation. The link will take you to a booking calendar for the next available session. A consultation is highly recommended to provide appropriate client-informed consent prior to deciding upon any DNA testing. For email inquiries, please use the Contact page.

START testing