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

Full Non-invasive Prenatal Screening

Full non-invasive prenatal screening (NIPS) is the process of quantitatively decoding the amount of placental DNA in the maternal blood in order to determine whether abnormalities in chromosomal structures exist. Full NIPS denotes the fact that all chromosomes are assessed. Circulating free placental DNA can be used as a biomarker of the fetus’s DNA to learn about the potential conditions affecting the fetus. Please expend the following sections for further details.

$799 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

The test uses full genome next-generation sequencing to screen for all fetal aneuploidies (abnormal chromosome count, most often trisomy), by sequencing and quantifying cell-free DNA fragments in maternal blood
This test is used for clinical purposes and should not be regarded as investigational or for research
As the test uses only a small sample of maternal blood, the procedure is termed non-invasive prenatal testing (NIPT) or screening (NIPS). NIPS has a higher level of sensitivity and speciﬁcity than traditional serum screening, with the highest detection rate and lowest false positive rate for Down syndrome (trisomy 21)
This test is for a woman with singleton or twin pregnancies that meet any of below criteria:
- Advanced maternal age (over 35 years of age at delivery for single pregnancies and over 32 years of age for twin pregnancies)
- Positive serum screen
- Abnormal ultrasound
- A medical history suggestive of an increased risk for chromosome aneuploidy
- Low risk but maternal anxiety is present
This test is not for women who have undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplantation
This test is not to diagnose specific genetic alterations in the DNA sequence. Please refer to the “Trio Exome Sequencing” or “Trio Full Genome Sequencing” options below for a diagnostic test with the most comprehensive view of alterations in an individual’s DNA code
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 only via institutional billing with the clinic billing patients/clients directly

Test Deliverables

Merogenomics provides background education towards patient/client informed consent
The blood sample collection kit includes prepaid shipping. Only one tube of maternal blood (7mL) is required
Services are fully insured, and are HIPAA, CLIA and CAP compliant
The results are available in 3–5 business days after the sample is received
The test is highly sensitive and specific about fetal aneuploidies for all chromosomes, providing the most accurate and comprehensive NIPS results:
- Aneuploidy of chromosomes 21, 18, and 13 (common aneuploidies)
- Aneuploidy of all remaining autosomal chromosomes (not available in twin pregnancies)
- Sex chromosome aneuploidies (monosomy X or Turner syndrome, XXX, XXY or Klinefelter syndrome, and XYY or Jacobs syndrome), are included if requested;
- Fetal sex (XX or XY) is reported if no sex chromosome aneuploidy is detected (optional)
- Select clinically significant microdeletions are included if requested:
  - 1p36 deletion
  - 4p- (Wolf-Hirschhorn syndrome)
  - 5p- (cri-du-chat syndrome)
  - 15q11.2 (Prader-Willi syndrome/ Angelman syndrome)
  - 22q11.2 deletion (DiGeorge)
This test is available as early as 10 weeks into the gestation period
The use of an algorithm provides unambiguous test results, and not a risk score as seen in other NIPS tests. The result of “Aneuploidy Detected” is considered positive while “No Aneuploidy Detected” is considered negative
The test is not dependent on maternal age, maternal weight, gestational age or ethnicity

Test Benefits

NIPS does not pose any risk to pregnancy
NIPS provides the earliest screening opportunity for chromosomal abnormalities and is the only screening option remaining for women in their third trimester
There is a higher level of accuracy with NIPS over the traditional serum screening option
It reduces the likelihood of undergoing an unnecessary invasive diagnostic procedure which carries a small but real risk of pregnancy loss
The full NIPS informs about all chromosomal aneuploidies instead of just the common aneuploidies, all of which can be important towards pregnancy management
Different aneuploidies can inform about different potential outcomes
Full genome next-generation sequencing NIPS allows for the screening of singleton and twin pregnancies, and pregnancies conceived using an egg donor

Test Limitations

NIPS based on a cell-free DNA analysis from maternal blood is a screening test, not a diagnostic test. No clinical decisions should be made based on NIPS results alone. For a definitive diagnosis to confirm any positive results, chorionic villus sampling or amniocentesis should be undertaken
Full NIPS screens for aneuploidies of all chromosomes which are rare conditions. While important when discovered, it also means that there is an increased rate of false positives than would be expected if only common aneuploidies were screened for. The increased likelihood of false positives has to be balanced with the desire to discover additional aneuploidies not covered by other tests
NIPS is unable to evaluate placental dysfunction, and cannot be used for the determination of risk for pre-term delivery, fetal growth restriction, preeclampsia, placental abruption, intrauterine fetal demise, and perinatal death
NIPS is unable to identify pregnancies at risk for open neural tube defects
The test results do not eliminate the possibility that the pregnancy may be associated with other chromosomal or subchromosomal abnormalities, genetic conditions, birth defects or complications that fall outside the scope of the test
A negative test result does not preclude the presence of chromosomal aneuploidy
In a twin pregnancy, detected aneuploidy will not allow one to determine the status of each individual fetus
The occurrence of sex chromosome aneuploidies cannot be evaluated in twin pregnancies
The test results might not reflect the chromosome status of the fetus, but rather the chromosomal changes of the placenta only (the confined placental mosaicism which may be associated with a higher chance for pregnancy complications), or of the mother (chromosomal mosaicism). This is one of the major sources of encountered false positives. In addition, the test could identify maternal chromosomal abnormalities or the presence of benign or malignant neoplasm
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 the 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 a pregnant woman with singleton or twin pregnancies of either advanced maternal age (over 35 years of age at delivery for single pregnancies and over 32 years of age for twin pregnancies), a history suggestive of an increased risk for chromosome aneuploidy, or test results warranting further screening (a positive serum screen and/or abnormal ultrasound). Full NIPS is an especially important option in the presence of an abnormal ultrasound result
This test is not for women who have 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
Morbidly obese women run an increased risk of test failure due to an insufficient amount of cell-free fetal DNA
It is recommended by sequencing guidelines that the ordering clinician provide efficient pre-test and post-test counseling to ensure that the patient/client makes informed decisions. If the healthcare provider is uncomfortable with providing counseling, especially post-test, referral to a certified genetics professional is warranted
No clinical decisions should be made based on NIPS results alone. All positive NIPS results have to be confirmed with either chorionic villus sampling or amniocentesis prior to any irreversible decisions regarding the pregnancy

Women whose results are not reported from the NIPS screening (a “no call” test result), should receive further genetic counseling and be offered a comprehensive ultrasound evaluation and diagnostic testing due to an increased risk of aneuploidy
In rare instances, the test could identify maternal chromosomal abnormalities or the presence of benign or malignant neoplasm
Patient data is HIPAA compliant, securely stored on cloud for continuous re-analysis, and never sold or shared with third-party companies

Technical Information

The DNA sample is prepared using a VeriSeq NIPT PCR-free sample prep kit and is sequenced using pair-end sequencing
The test provides 5% sensitivity, 99.8% specificity and 92.8% positive predictive value (PPV) for trisomy 21. 97.2% sensitivity, 99.7% specificity and 74.3% PPV for trisomy 18. 98.0% sensitivity, 99.8% specificity and 50.0% PPV for trisomy 13. 95.0% sensitivity, 99.0% specificity for monosomy X. 98.7% specificity and 99.95% specificity for all autosomes. PPV of 90.0% for 22q11 deletion syndrome, and 10.5% to 66.7% PPV for the other microdeletion syndromes
It possesses the lowest test failure rate of 0.1% of available commercial NIPS tests
The proprietary algorithm normalizes the chromosome value for each chromosome of interest, reducing data variation caused by sequence content, or sample-to-sample and run-to-run variations and classifies aneuploidies across the entire genome
Results are reported as “Aneuploidy Detected” or “No Aneuploidy Detected” for each common aneuploidy chromosome and sex chromosomes, and collectively for the remainder of autosomal aneuploidies unless a specific chromosome positive result has to be reported. The results for a positive microdeletion syndrome are reported as “results consistent with a microdeletion in a certain genomic region”
The fetal fraction estimate is reported as per the proposed sequencing guidelines but is not used in isolation to exclude samples. For low fetal fraction samples, quality metrics are implemented to ensure valid sequencing coverage, otherwise the sample is considered failed

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 received
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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Invasive Prenatal 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 (less than 2% of the genome, but containing most of the known disease-causing variants), and is currently the most comprehensive gene panel. Variants (changes) 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, 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. This test is specifically for the diagnosis of an unborn fetus and also includes the full genome sequencing of both biological parents. Please expand the following sections for further details.

Please contact for pricing

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Test Description

Exome sequencing provides the overview of alterations in an individual’s DNA code in all of the genes found in the human genome
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 a pregnant woman with an indication of a suspected genetic condition affecting the fetus based on prior test results and supporting family medical history. The test requires an invasive procedure to collect amniotic fluid in order to obtain fetal DNA. Amniocentesis carries a small but real risk of pregnancy loss
The test also required blood or saliva samples from both of the biological parents of the affected fetus, and the DNA sequencing results are interpreted as a family. The data is analyzed to identify differences and similarities in DNA between the parents and the fetus in a bid to discover the genetic causes of the condition affecting the fetus and to determine potential medical management changes prior to or post birth. The trio test option provides a 2x higher detection rate than proband patient only
Accurate assignment of family relationships is necessary for the successful analysis of the family prenatal trio exome sequencing. The biological relationship between submitted family samples will be assessed to ensure that the parental relations were correctly identified. If a discrepancy is identified (for example, the father of the fetus is not the biological father), the ordering physician will be notified and the prenatal trio full exome sequencing will be cancelled
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 exome sequencing include:
- Congenital anomalies
- Developmental delay
- A previous family history or family consanguinity with positive screening results
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. The 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
This test is not for individuals interested in proactively screening the fetus for health predispositions and no such test is offered by Merogenomics. Please refer to the DNA Tests for Health Risks section for a screening test that can be used post-natally
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 for both biological parents, with prepaid shipping included. The amniotic fluid sample (20 mL) is shipped by the collection clinic using a sterile container
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 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 3-4 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 fetus. No further analysis of the exome is done
Secondary findings unrelated to the medical condition but which might impact the fetus’ health can be reported for the client if requested by the ordering physician. It includes findings in a set of 59 genes as recommended by the American College of Medical Geneticists (ACMG) for incidental findings, excluding adult-onset conditions. This is a list of genes that are linked to different disease developments for which intervention or disease treatment options are available
This test is available as early as 11 weeks into the gestation period
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 fetus/family 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 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’s data storage by the company

Test Benefits

To obtain or confirm 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, or variants associated with increased disease risks. 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 prior to and/or post birth
- The patient can potentially be released from unnecessary clinical surveillance including potentially invasive diagnostic procedures
- Interventions could be made to prevent the worsening of the condition from developing prior to and/or post birth
- Preparation for the outcomes can be addressed, whether through education, preparation for delivery complications, or by seeking clinical trials post birth
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
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 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
The test offers a diagnostic success rate of up to nearly 40%

Test Limitations

An invasive procedure is required to obtain a sample for fetus diagnostic DNA sequencing. Such procedures carry the risk of pregnancy loss, estimated at 0.11% for amniocentesis and 0.22% for chorionic villi sampling
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 on the test process. Merogenomics also provides additional education towards patient/client informed consent
The test is for a pregnant woman with an affected fetus based on a prior examination with no clear clinical diagnosis but with ruled out suspect environmental factors as a reason of the observed condition. The purpose of the test is to determine if a genetic basis of the condition affecting the fetus can be uncovered, leading to a diagnosis and potential medical management changes or pregnancy length
Suspected conditions compatible with exome sequencing include:
- Congenital anomalies
- Developmental delay
- A previous family history or family consanguinity with positive screening results
The test results should be interpreted in context with any other available fetus/family 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 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 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 – the information requiring the utmost attention spanning the entire genome
  - ACMG 59 status – the 59 genes tied to the clinical conditions 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
  - Variants of unknown significance – DNA changes currently without evidence of clinical impact
  - Structural variants – large scale DNA changes such as gross deletions or duplications
  - A summary of the results and interpretation
- 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 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 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
Maternal cell contamination analysis is performed on the amniotic sample

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
A companion mitochondrial DNA analysis can be added for an additional cost
Exome sequencing raw data (FASTQ, BAM and/or VCF), only can 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
Volume discounts are available. Contact Merogenomics for more details

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Invasive Prenatal 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, including more targeted genetic testing. This test is specifically for the diagnosis of an unborn fetus and also includes full genome sequencing of both of the biological parents. Please expend the following sections for further details.

$7,999 CAD

Expand to see additional information

Test Description

Whole genome sequencing (including nuclear and mitochondrial DNA), provides the most comprehensive overview 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 DNA sequence interpretation
The test is for a pregnant woman with an indication of a suspected genetic condition affecting the fetus based on prior testing results and supporting family medical history. The test requires an invasive procedure to collect amniotic fluid in order to obtain fetal DNA. Amniocentesis carries a small but real risk of pregnancy loss
The test also requires blood or saliva samples from both of the biological parents of the affected fetus, and the DNA sequencing results are interpreted as a family. The data is analyzed to identify differences and similarities in DNA between the parents and the fetus in a bid to discover the genetic causes of the condition affecting the fetus and to determine potential medical management changes prior or post birth
Accurate assignment of family relationships is necessary for the successful analysis of the family prenatal trio full genome sequencing. The biological relationship between submitted family samples will be assessed to ensure that the parental relations were correctly identified. If a discrepancy is identified (for example, the father of the fetus is not the biological father), the ordering physician will be notified and the prenatal trio full genome sequencing will be cancelled
Suspected conditions compatible with exome sequencing include:
- Congenital anomalies
- Developmental delay
- Previous family history or family consanguinity with positive screening results
This test is not for individuals interested in proactively screening the fetus for health predispositions and no such test is offered by Merogenomics. Please refer to the DNA Tests for Health Risks section for a screening test that can be used postnatally
Anonymized clinically-relevant information of the patient/client 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 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. Merogenomics does not recommend having the fetal DNA analyzed for any additional purposes by an independent third-party. Merogenomics recommends checking the quality of any company prior to submitting the DNA of any family member for such additional analysis, and to determine 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. 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 for both biological parents, with prepaid shipping included. The amniotic fluid sample (20 mL) is shipped by the collection clinic using a sterile container
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 will include primary findings that are directly related to the cause of the disease for the fetus. No further analysis of the genome is done
Secondary findings unrelated to the medical condition but which might impact the fetus’ health can be reported for the client if requested by the ordering physician. It includes findings in a set of 59 genes as recommended by the American College of Medical Geneticists (ACMG) for incidental findings, excluding adult-onset conditions. This is a list of genes that are linked to different disease developments for which intervention or disease treatment options are available
Separate results will be provided for the biological parents that will include findings in the set of 59 ACMG genes, carrier status, and pharmacogenomic information, including an analysis of shared carrier status and risks
This test is available as early as 11 weeks into the gestation period
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 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 patient 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
The genome sequence can be provided to the client upon request using a secure FTP server download

Test Benefits

To potentially obtain 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 risks. 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 prior to and/or post birth
- The patient could potentially be released from unnecessary clinical surveillance including potentially invasive diagnostic procedures
- Intervention could be made to prevent the worsening of the condition from developing prior to and/or post birth
- Preparation for the outcomes can be determined, whether through education, preparation for delivery complications, or by seeking clinical trials post birth
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 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

An invasive procedure is required to obtain a sample for fetus diagnostic DNA sequencing. Such procedures carry the risk of pregnancy loss, estimated at 0.11% for amniocentesis and 0.22% for chorionic villi sampling
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 a pregnant woman with an affected fetus based on prior examination with no clear clinical diagnosis but with ruled out suspect environmental factors as a reason of the observed condition. The purpose of the test is to determine if a genetic basis of the condition affecting the fetus can be uncovered, leading to a diagnosis and potential medical management changes or pregnancy length
Suspected conditions compatible with exome sequencing include:
- Congenital anomalies
- Developmental delay
- Previous family history or family consanguinity with positive screening results
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 the patient’s 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 data with an easy-to-use web console during and after the genome sequencing with all of the clinically relevant results made available. Merogenomics can offer an explanation of the use of the web console. Merogenomics will not have access to the patient/client’s data using the web console
Proprietary gene selection based on disease phenotypes (using HPO nomenclature), are used to help 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 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 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 the clinical conditions 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
Separate reports will be issued for the biological parents of the fetus and will include the ACMG 59 and carrier status, including an analysis of shared carrier status and risks
The pharmacogenetic results of the parents are provided in an independent report. This information relates to drug response and/or toxicity based on public databases listing clinically valid results
The service provider board-certified medical geneticists can provide a second opinion for medical management second

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
Maternal cell contamination analysis is performed on the amniotic sample

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 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

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