Cardiology gene panel

Cardiology gene panel

  • $2,199.00
    Unit price per 

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

A cardiology gene panel DNA test assesses specific DNA code sites for an interpretation related to hereditary cardiovascular disease and the development of lipid disorders.

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

 

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

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

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

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

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

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

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

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.