Cancer 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

Hereditary predisposition to cancer

 

Cancer Predisposition Gene Panel

Gene panel sequencing is the process of decoding the order of nucleotide bases in the DNA of selected genes that are currently known to be associated with the health-impacting condition being investigated. Variants (changes) observed in the DNA between different individuals can 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 hereditary cancer predisposition gene panel looks for DNA alterations in the select 81 genes validated to play a role in cancer development. Please expand the following sections for further details.

$2,499 CAD

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.

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Test Description

  • Gene panel sequencing provides the overview of alterations in an individual’s DNA code in genes related to cancer predispositions across numerous cancer types
  • 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 presumed healthy individuals interested in proactively screening themselves for hereditary cancer predispositions. The test is also for patients already diagnosed with cancer who had not investigated their germline DNA for hereditary cancer predisposition, or who seek further information
  • 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 screening test for the most comprehensive overview of alterations in an individual’s DNA code, including cancer predispositions, genetic disease risks, pharmacogenetics information and carrier status. Please to refer to the “Pharmacogenomic Panel” option below for pharmacogenetic-specific information
  • This test is not for DNA analysis of tumor samples. Please refer to tumor sequencing test options below for more information
  • 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 the prognosis or change medical management or the treatment of disease
  • 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, HIPAA, CLIA and CAP compliant
  • The results are available within 14-21 days
  • Concise clinical report is delivered to the ordering doctor only, and then subsequently discussed/shared with the patient/client. The report lists variants associated with the increased risk of developing a hereditary cancer
  • Previous medical information of the patient/client that has already been 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 storage by the company

Test Benefits

  • Positive results can have important implications for the medical management of otherwise presumed healthy individuals, including screening frequency, undergoing prophylactic surgery, or other risk-reducing measures
  • For cancer patients, the results might inform one’s physician about treatment options or determine their eligibility for clinical trials
  • Individuals can be released from unnecessary clinical surveillance, including potentially invasive diagnostic procedures
  • The test results can help identify other at-risk family members
  • 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 a variant is added to a panel, the previous information cannot be updated for that particular gene/variant if the patient/client has not been tested for it in the first place. Therefore, in order 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 an 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, and 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 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 provides background education towards patient/client informed consent
  • The test results should be interpreted in context with any other available patient/client clinical findings
  • 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, which can then 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
  • It is recommended by guidelines that the patient/client undergoes genetic counseling prior to and following 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 patient/client report, but can review the report after the receipt of data if that is 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 arranged as follows:
      • Pathogenic or likely pathogenic results – 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 interpretation
      • A list of the genes analyzed in the panel
    • The second page will list a personalized lifetime risk score for breast or prostate cancer, including follow-up suggestions (optional)
    • The final pages are devoted to 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 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 (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, or specific point mutations are analyzed, depending on the gene investigated
  • The test provides over 99.9% sensitivity
  • Proprietary methods identify and analyze 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: 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: AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CFTR,  CHEK2, CPA1, CTNNA1, CTRC, DICER1, EGFR, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2

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, 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.

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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 would otherwise be hidden until symptoms appeared. Full genome sequencing captures the entire human DNA sequence information, and therefore is the most comprehensive method of screening for DNA alterations that could be involved in cancer development predispositions. Please expend the following sections for further details.

$4,099 CAD

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 oversee the clinical report based on the interpretation of the DNA sequence
  • The test is for presumed healthy individuals who are interested in proactively screening themselves for health predispositions, including cancer predisposition, as well as drug responses
  • This test is not meant to diagnose an already suspected genetic condition. Please refer to the Undiagnosed Diseases DNA Tests section for diagnostic testing options
  • This test is not for the DNA analysis of tumor samples. Please refer to tumor sequencing test options for more information
  • 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 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. If and when any such information is scientifically validated, 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 analysis
  • 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 test will provide the DNA code of nearly the entire genome using the current best sequencing systems, and will be 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 spans three sections: 
    • The variants that put the individual at an increased risk of developing a disease
    • The variants for which the individual is a carrier
    • The variants that impact drug responses
  • Identified pathogenic or likely pathogenic variants are reported even when they fall outside the set of ACMG’s 59 genes recommended for incidental findings
  • Patients can opt out of obtaining the risk information of diseases that are currently untreatable
  • 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
  • The 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 entire medico-legal paper work and audit trail is initiated and provided to the clinic
  • 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
  • The databases used for genome DNA sequence interpretation are updated on a quarterly basis, and if novel findings pertaining to currently unknown variants identified in a patient/client  are available, the ordering physician will be continuously notified for the duration of the genome’s storage by the company
  • The genome sequence can be provided to the patient/client upon request using a secure FTP server download
  • For couples planning to have children together, and who both order testing, an analysis of their shared carrier status and risks is provided, helping individuals have an in-vitro fertilization pre-implantation genetic diagnosis procedure

Test Benefits

  • Obtain a diagnosis when other standard testing methods fail to provide a clear answer. A diagnosis is made for DNA variants that are considered strong causal candidates for a genetic disorder, variants which are 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 variants will be categorized as follows:
    • Treatable medical conditions – those in which treatment or intervention is currently available
      • ACMG59 conditions – the current gold-standard of 59 genes affecting 27 medical conditions as recommended by the American College of Medical Genetics and Genomics which is the minimum recommended amount of information to be returned to patients undergoing genomic testing
      • All other conditions for which supporting information is available
    • Untreatable medical conditions – those in which there is no cure currently available, such as Alzheimer’s and Parkinson's. This is optional and can be selected to not be received in the report. If such a request is not made, the information is automatically included
    • Cancer predisposition – variants that increase the risk of cancer development
    • Carrier status – variants that do not cause disease, but if they are also found in a partner, together produce the risk of having children with a disease, and thus is important for reproductive planning
  • The diagnosis can provide the possibility of guiding or influencing medical care management as follows:
    • Treatment of the already existing condition
    • Intervention to prevent the condition from developing
    • Screening to be able to catch the condition development at its earliest stages
    • 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
  • The 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

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 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
  • This test is a screening test for presumed healthy individuals and is not meant to be used as a diagnostic test, and should not be used to diagnose a suspected disease in a patient/client. Please refer to the “Persons with Undiagnosed Diseases” section for diagnostic testing options
  • It is recommended by genome sequencing guidelines that the patient/client undergoes genetic counseling prior to 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’s data using the web console
  • 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 – information requiring the utmost attention spanning the entire genome
      • Carrier status – information important for reproductive planning
      • ACMG 59 status – the 59 genes tied to clinical conditions as most strongly recommended by the American College of Medical Genetics and Genomics guidelines to be reported to patients if they are affected
      • Other – mitochondrial or structural variants. Structural variants are the alteration 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 conditions
    • The final pages are devoted to the methods of testing and the limitations of the procedure
    • Pharmacogenetic results are provided in an independent report. This information relates to drug responses and/or toxicity based on public databases listing clinically valid results
  • It is strongly recommended that all pathogenic or likely pathogenic results are followed up by genetic counseling by the patient/client
  • The service provider’s board-certified medical geneticists can provide a second opinion for medical management

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 offers 95% 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
  • 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
  • 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 a patient submitted sample), or as a VCF file (list of variants that differ from the human genome reference that was used for the alignment of the client’s genome data)
  • Extracted genomic DNA can also be submitted for sequencing, 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.

START testing

 

 

 

Cancer patient profiling for medical management

 

Pharmacogenomic Panel

Pharmacogenomics is the study of variability in drug response due to heredity. Pharmacogenomic panel sequencing is the process of decoding the order of nucleotide bases in specific DNA sites of selected genes currently known to be associated with drug metabolism, transport, mode of action, or risk of adverse effects. Variants (changes) observed in the DNA between different individuals afford insights into the variation in medication dosing or toxicity. Please expend the following sections for further details.

$699 CAD

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

  • A pharmacogenomic panel analyzes specific DNA alterations (genotyping) that are associated with validated effects on personal responses to medication
  • 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 or a pharmacist who will oversee the clinical report based on the DNA sequence interpretation
  • The test is for oncology patients interested in genetic diagnosis only in relation to how it impacts their response to medication, including cancer treatment therapies such as chemotherapies, targeted therapies, and medications used in supportive care for conditions such as nausea, vomiting, pain, anxiety, depression, sleep deprivation, and for antimicrobial use or the use of multiple medications. In total, the test provides information for over 300 medications also used in the treatment of the following conditions: acute migraine, ADHD, allergies, Alzheimer’s disease, anticoagulation, antiplatelet therapy, arrhythmias, benign prostatic hyperplasia, chronic hepatitis C, diabetes, dyslipidemia, gastroesophageal reflux disease, gout, HIV infection, hypertension, immunosuppression, migraine prophylaxis, overreactive bladder, Parkinson’s disease, psychosis, rheumatoid arthritis, seizures, and smoking cessation
  • The test report provides information on gene-drug interaction, and is categorized based on the expected impact, which ranges from limited to major gene-drug interaction
  • The test is for cancer patients who:
    • Plan to initiate cancer treatment with certain chemotherapies or targeted therapies
    • Used medications without beneficial results
    • Use multiple medications
    • Experienced unwelcome side affects from medication
  • This test is not used to diagnose any other inherited suspected genetic conditions. Please  refer to the “Full Genome Sequencing” option for a screening test for the most comprehensive overview of alterations in an individual’s DNA code, including cancer predispositions, genetic disease risks, pharmacogenetics information and carrier status
  • This test is not for the DNA analysis of tumor samples. Please refer to tumor sequencing test options for more information
  • 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 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 blood sample, with prepaid shipping included
  • Services are fully insured, and are HIPAA, CLIA and CAP compliant
  • The results are available within 10 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 affecting an individual’s response to specific medications
  • The ordering doctor will obtain their own personal login to the web console in order to have direct access to all of the data
  • The databases used for DNA sequence interpretation are regularly updated, and novel pharmacogenetic findings pertaining to analyzed variants identified in a patient/client will be delivered to the ordering physician for the duration of DNA data storage by the company
  • Complimentary post-test genetic counselling is offered

Test Benefits

  • Fine-tune the dosing of certain chemotherapies and targeted therapies to avoid or minimize toxicity
  • Guide medication decisions for comorbid conditions related to cancer treatment
  • Prevent unintended interactions between drugs
  • Improved medical compliance due to the reduced chance of adverse reactions
  • The test results can be used continuously in the future treatments over the course of the patient/client’s lifetime for over 300 medications
  • 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 a variant is added to a panel, 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 implication might be present in the selected genes that are not investigated by the test due to an 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 differentiate duplications in the presence of a deletion
  • 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 drug responses. 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
  • 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. A pharmacogenomic test can also be requested by a pharmacist. 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 background education towards patient/client informed consent
  • 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, which is securely stored on cloud for continuous re-analysis, and is never sold or shared with third-party companies
  • The ordering physician or pharmacist can select medications that are most relevant to the particular patient/client for added focus, including dosing guidelines and potential medication alternatives
  • The ordering physician or pharmacist will be the recipient of the genotyping 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 ordering doctor/pharmacist obtains their own personal login to the diagnostic web console with access to all of the data, in order to:
    • Interpret the test results
    • Obtain detailed information about all of the medications in the database
    • Evaluate drug-to-drug interactions as related to the patient
    • Identify alternative medications for the patient
    • Analyze medications based on specialty, indication, or the patient’s medical history
    • Generate custom reports
  • The report is designed with doctors in mind and will be divided into the following sections:
    • The first page will list the symbols that are used in the report
    • A summary of personalized medication pre-selected by the ordering physician (optional)
    • All medications organized by specialty and classified based on the severity of the predicted gene-drug interaction
    • Hyplotype/genotype results along with the predicted drug phenotype impacts
    • The patient/client’s entire genotyping results that make up the analyzed hyplotypes
    • The final page is 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 or liver transplant. A history of hematological disease might exclude test availability in certain circumstances
  • Samples cannot be accepted if the patient/client is experiencing kidney or liver failure
  • 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
  • The service provider’s clinical pharmacists can provide information regarding test results to the ordering doctor

Technical Information

  • PCR-based genotyping and copy number variant analysis run on an IntelliQube qPCR Platform using Thermo Fisher TaqMan® and/or LGC Biosearch BHQ® probe-based methods
  • Possesses over 99.9% sensitivity
  • Proprietary methods identify and analyze the following types of variants (depending on the gene investigated):
    • 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)
  • A proprietary haplotyping algorithm is used to convert genotypes to haplotypes
  • For clinical genes with related pseudogenes, sequencing is performed to confirm the mutation presence in the gene of interest and not in the pseudogene
  • Only drugs which fit the highest level of published clinical validity (level 1 or level 2 of PharmGKB database) are included in the bioinformatic analysis
  • Genes investigated: COMT, CYP1A2, CYP2B6, CYP2C cluster, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, DRD2, F2, F5, GRIK4, HLA-A, HLA-B, HTR2A, HTR2C, IL28B (IFNL4), NUDT15, OPRM1, SLC6A4, SLCO1B1, TPMT, UGT1A1, VKORC1

Additional Information

  • MTHFR gene analytical analysis can be added at no additional cost if requested by the ordering physician
  • 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.

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Germline Full Genome plus Tumor Full Genome and Transcriptome Sequencing

In attempting to capture the entire human DNA sequence information, full genome sequencing is the most comprehensive method of screening for DNA alterations that could be involved in cancer development predisposition, which is information that can be influential for cancer treatment purposes. In addition, the tumor genome is also fully sequenced to uncover the potential causative mutations of disease development. Transcriptome sequencing is the process of decoding the order of nucleotide bases in the entire population of RNA that is captured from tumor cells. RNA is the intermediary blueprint generated from using the DNA code, and is used for the production of all of the proteins in the cell. The study of RNA products in tumor cells adds an additional layer of information about the cancer development process. Please expend following sections for further details.

$16,099 CAD

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.

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Test Description

  • Whole genome sequencing (including nuclear and mitochondrial DNA), provides the most comprehensive view of alterations in an individual’s DNA code. This process can be applied for normal cells as well as cancer cells. Transcriptome sequencing provides the most comprehensive view of RNA products captured from tumor cells. RNA is the precursor blueprint for the production of proteins, and thus informs which genes in the genome DNA are being used by the cells. Apart from confirming the alterations that have taken place in the DNA, it can also reveal alterations at the RNA level that would not be captured with DNA sequencing 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 germline DNA (that is the DNA inherited from one’s parents), as well as tumor DNA and RNA sequence interpretation
  • The test is for individuals diagnosed with cancer who are interested in proactively screening tumor biopsy molecular information (including both DNA and RNA), along with their own genome in order to determine if a genetic diagnosis of cancer development can be uncovered, leading to potential medical management changes
  • This test is not for presumed healthy individuals looking to screen themselves for cancer predispositions. Please to refer to the “Hereditary predisposition to cancer” section
  • 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 cancer condition being analyzed. The test does not provide secondary findings or pharmacogenomic findings except for those related to cancer treatment. 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 an 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 DNA results for such additional analysis, and determining whether there is scientific validity behind the information being investigated
  • The test might not provide a diagnosis if the causative variant is not identified. Even with a successful DNA diagnosis, it is possible that the information might not help in predicting the prognosis or change medical management or the treatment of the disease
  • Tests 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. Financial assistance options are also available

Test Deliverables

  • Merogenomics provides background education towards patient/client informed consent
  • The collection kit for a blood sample for germline genome analysis with prepaid shipping is included
  • Retrieval of a tumor or cancer sample from a designated pathology lab is included
  • Services are fully insured, as well as HIPAA, CLIA and CAP compliant
  • The results are available in 21 days
  • Laser capture microdissection for specific isolation of tumor cells is performed and will be identified by an in-house pathologist
  • Whole genome sequencing of a tumor or cancer sample plus whole genome sequencing of inherited (germline) genome for the potential identification of:
    • Single nucleotide alterations
    • Insertions and deletions of DNA
    • Copy number variants (number of copies of a gene)
    • Translocations (rearrangement of chromosomes)
  • RNA transcriptome sequencing, to provide information about abnormal protein pathways involved in the growth of cancer
  • Tumor mutational burden and microsatellite instability is analyzed for therapeutic decisions on cancer immunotherapies
  • The tumor or cancer sample and normal/germline sample are tested to ensure that they originate from the same person
  • A concise clinical report signed off by a medical geneticist is delivered to the ordering doctor only, and then subsequently discussed/shared with the patient/client
  • The report provides information on the patient’s best-matched FDA approved therapies and active clinical trials, and therapies to which the cancer may be resistant to
  • An incidental findings screening can be requested on 22 cancer medically relevant genes, including inherited genetic risk factors for particular types of cancers and other medical conditions. Certain conditions apply
  • Reports are made available for the ordering doctor via a secure web portal
  • Access to support for both patients and treating physicians is available
  • The databases used for genome DNA sequence interpretation are updated on a quarterly basis, and if novel findings pertaining to currently unknown variants identified in a patient/client  are available, the ordering physician will be continuously notified for the duration of the genome’s storage by the company

Test Benefits

  • Provides an increased accuracy of identified molecular targets through the comparison of findings in a germline/normal genome versus a tumor genome and transcriptome
  • Cancer molecular diagnosis can point to specific targeted therapy treatments or medical care management, resulting in:
    • The avoidance of ineffective therapy usage
    • A decrease in treatment cycles through improved selection
    • Reduced use of traditional chemotherapy and radiation
    • Improved treatment outcomes with higher survival rates
    • Fewer, and less severe, treatment side-effects
    • The potential to increase clinical trial participation
  • 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
  • The 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 would 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

  • This test is utilized for solid tumors only
  • The “entire genome sequence” refers to the current feasibility of technology, as an entire genome is actually not decoded because no technology currently 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 (which is 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 incidental findings screening test does not comprehensively evaluate the selected genes for all types of alterations that may have clinical consequences, and genetic abnormalities could be present that are not tested for
  • Each patient will present their own unique read depth distribution across the assessed genomes, which might not be sufficient enough for the accurate analysis across the span of the entire genome
  • Genomic DNA and/or RNA results may be delivered with alternate technology platforms if an insufficient quantity is available for whole genome sequencing
  • 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
  • No prior medical records or test results are analyzed
  • 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 has not been cleared or approved by the US Food and Drug Administration. The FDA does not require this test to go through a pre-market 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. In addition, Merogenomics provides background education towards patient/client informed consent
  • This test is a screening test for individuals diagnosed with cancer to determine if a solid tumor molecular diagnosis can be uncovered, leading to potential medical management changes
  • It is recommended by genome sequencing guidelines that the patient/client undergoes genetic counseling prior to clinical DNA testing
  • The DNA and RNA sequencing takes place in a CLIA/CAP certified laboratory. The interpretation of the DNA data is based on public and private databases of clinical past observations. The final results are overviewed 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
  • The 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 available
  • 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 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’s 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 as follows:
      • Pathogenic or likely pathogenic results – therapeutic agents targeting the identified alterations are listed
      • Incidental findings – additional findings that may have medical utility for the treating physician, including inherited genetic risk factors for particular types of cancers and other medical conditions as recommended by the American College of Medical Genetics and Genomics guidelines
      • Follow-up recommendations
    • The remaining pages will list details about each of the mutations and the corresponding condition, methods of testing, limitations of the procedure, and clinical trials potentially available to the patient
  • 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, DNA quality may be affected if the patient has received treatment in past 120 days, potentially requiring sample resubmission

Technical Information

  • DNA and RNA sample is sequenced using Illumina platform
  • There is more than 95% sensitivity and 99% specificity for the detection of somatic RNA variants
  • State of the art bioinformatics tools are used for alignment and somatic and germline 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)
    • Structural variants (DNA alterations that affect large segments of DNA of more than 50 bp, and can include insertions, deletions, inversions, translocation, breakpoints or copy number variations or CNVs: the duplication of a particular DNA segment)

Additional Information

  • 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 revealed
  • Liquid biopsy testing can be added for concurrent tissue and blood profiling, with test results available within 7 days. Contact Merogenomics for more details
  • 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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Related Information:

Types of Genome Sequencing Procedures

DNA Tests for Health Risks

Prenatal DNA Tests

Undiagnosed Diseases DNA Tests

Genomic Education