Full genome sequencing

$3,063.00
Unit price per

For financing options, please see the Financing tab below.

A full genome sequencing DNA test assesses the entire DNA code for an interpretation related to an increased risk of genetic human diseases, or to provide the carrier status of diseases.

In order to obtain the DNA testing kit under medical supervision (required), the purchased test includes a bill to be presented at your selected clinic. Test prices can vary between different medical clinics. PATHOGENIC RESULTS WILL REQUIRE A GENETIC COUNSELING SESSION PRIOR TO MEDICAL MANAGEMENT.

Clients will also be given a checklist of topics to facilitate informed consent. Test purchase should take place after consultation with a Merogenomics representative in order for the client to be best prepared for informed consent. Informed consent and education towards its understanding will be required by the clinic. IF YOU HAVE NOT CONSULTED MEROGENOMICS ABOUT YOUR DNA TEST PLEASE BOOK A FREE APPOINTMENT USING THE LINK BELOW PRIOR TO TEST PURCHASE!

All international or Canadian clients in a region without a supported medical clinic, please book a meeting with Merogenomics to discuss the use of your preferred local doctor.

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. Test prices can vary between different medical clinics. Volume discounts available.

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
This test is not meant to diagnose an already suspected genetic condition or to obtain pharmacogenetic information. Please refer to the "Undiagnosed diseases DNA tests" section for diagnostic testing options. Please refer to the “Pharmacogenetic panel” option for pharmacogenetic-specific 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

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 12 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 73 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

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
  - ACMG 73 conditions – the current gold-standard of 73 genes affecting 35 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

The “entire genome sequence” refers to the current feasibility of technology, as an entire genome is actually not decoded because no single technology exists to be able to sequence the full human reference genome. The current employed technology generates 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

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 73 status – the 73 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

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

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

Clinical DNA testing is not a simple straight-forward process compared to commercial, direct-to-physician genetic testing. As a consequence, there are stringent guidelines and criteria that need to be fulfilled in order to ensure that the results of the test, as well as the managing parties involved, are all compliant for subsequent medical oversight.

The client/patient has a consultation with Merogenomics to fully understand informed consent for Clinical DNA testing.
All DNA tests promoted by Merogenomics require a doctor to sign a test order. The client/patient can select one of the clinics for DNA testing. This selection allows for online test purchase. Alternatively, any physician can order the test for a client. Merogenomics can provide background about the desired test to any physician interested in signing the test requisition form. For independent doctors, you will need to book a FREE consultation.
The client picks the DNA test of choice offered by the selected clinic. Alternatively, any DNA test can be selected if ordered by independent doctor.
The client/patient will have the option to purchase the test in full or apply for financing. An invoice is issued to the patient on behalf of an ordering doctor/clinic, allowing the patient to proceed to a clinic to receive the DNA test kit. The DNA test kit can only be obtained upon proof of payment.
For independent doctor orders, the invoice can be issued from the DNA test provider.
The doctor must sign the test requisition form. The ordering doctor is also the doctor who will receive the DNA test results.
The biological sample containing the client/patient’s DNA must be collected (blood or saliva, depending on DNA test).
For blood collection, the blood will be either collected at the clinic of the ordering physician, or at an independent blood collection clinic.
The DNA test kit can be sent by either of the clinics. Sending through an independent blood collection clinic might require extra fee.
The DNA test kit is received by the test service provider. DNA is isolated from the biological sample, checked for quality and sequenced. The DNA code is analyzed for medical interpretation and a report is generated. The ordering physician can then have access to a clinical interpretation of the DNA code.
The report is provided to the ordering physician for medical management consideration. The client/patient can only obtain the results from the ordering physician.
Pathogenic results will require interpretation oversight by a genetic counsellor prior to medical action.
The client/patient can choose either public or private genetic counselling access.
The ordering physician determines medical management of the client/patient.

Purchase of the test can be refunded within 30-days of issued invoice date minus $50 processing fee to cover the costs associated with testing kit (even if the kit was not used by the customer). A refund is not available once the sample has been obtained by the laboratory and DNA testing has commenced.

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Merogenomics is collaborating with a third party institution, Blue Finance, to provide access for eligible customers to convenient, monthly payment options. Contact Merogenomics for more information.

Below are examples of possible monthly payment options for specified duration terms.

Payment options for 12 month term

DNA test cost	Monthly payment
$699	$65
$799	$85

Payment options for 24 month term

DNA test cost	Monthly payment
$2,499	$127
$3,749	$190
$4,099	$208
$5,199	$264
$7,399	$376

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