Trio exome sequencing

Trio exome sequencing

  • $10,999.00
    Unit price per 

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This DNA test is currently available by appointment only. Please contact Merogenomics using link below.

A trio exome sequencing DNA test assesses all genes within the genomes of the affected patient and biological parents towards the diagnosis of the disease that cannot be obtain by other standard medical means.

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.

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

 

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

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

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

  • 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

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

  • 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

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

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.

Dr. Denis Vincent Clinic

138-8627 91 St NW, Edmonton AB

United Health Centres Clinic

7609 109 St NW, Edmonton AB

Please contact us if your clinic is interested in providing access to DNA testing.