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GeneSeq®: Cardio Familial Arrhythmia Profile
This test covers all coding nucleotides of 29 genes: ANK2, ATP1B1, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GINS3, GPD1L,JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LIG3, NOS1AP, NPPA, PKP2, PLN, RYR2, SCN1B, SCN4B, SCN5A, SNTA1, TGFB3, and TMEM43; exon 18 of AKAP9; plus at least two and typically 10 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 10 flanking nucleotides in the 5′ and 3′ UTR.
Confirm a clinical diagnosis of Arrhythmia and identify presymptomatic family members, guiding prophylactic measures.
This analysis does not rule out germline mosaicism, the presence of large chromosomal aberrations (including deletions, insertions, and rearrangements), mutations in regions or genes not included in this test, and possible inter/intragenic interactions between sequence variants. False-positive or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, mislabeled specimens, or erroneous representation of family relationships.
Select XT® enrichment method and the Illumina® next-generation sequencing platform. Regions of the interest include all exons and splice junctions for each gene and limited regions for the following: SHOC2 (exon 2), APOB (556bp of exon 26), and AKAP9 (exon 18). Sequencing reads are aligned with the hg19 build of the human genome reference sequence. Analytical sensitivity is based on the depth of coverage across the regions of the interest and is provided separately for each gene. Greater than 98% of target bases are synonymous variants not previously recorded at greater than or equal to 20x coverage. Sanger sequencing is used to confirm mutation identity and analyze regions with low coverage. Variants are reported using numbering and nomenclature recommended by the Human Genome Variation Society (HGVS). Variants known to be benign and synonymous variants not previously recorded in our internal variant data bases are not reported.
Cardiac arrhythmias are generally characterized by abnormal electrical activity in the heart that puts patients at high risk for embolic stroke and/or sudden cardiac death (SCD). Commonly recognized arrhythmic disorders include atrial fibrillation (AF), long QT syndrome(LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), and Brugada syndrome (BrS).
Genetic testing for mutations in genes known to be associated with LQTS, CPVT, ARVD/C, AF, and BrS can be used in conjunction with standard cardiac testing to help:
• Confirm a diagnosis.
• Differentiate between arrhythmic disorders.
• Clarify the prognosis, alerting patients and physicians to the most common arrhythmia triggers, which may be specific to the underlying genetic cause.
• Guide therapeutic strategies.
• Identify family members who are at increased risk for arrhythmic disorder and may benefit from cardiac screening.
An estimated 30% to 50% of arrhythmia cases are familial. Mutations responsible for arrhythmias are typically acquired in an autosomal-dominant manner. Carrier screening for mutations in at-risk family members may help identify individuals - particularly those who do not have clinical signs or symptoms of disease - who would benefit from early intervention to reduce the risk of cardiac events.
10 mL whole blood or 30 mL if ordering multiple tests
Causes for Rejection
Frozen specimen; container broken or leaking; container not labeled or label not legible; improper anticoagulant
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. Please call customer service at 866-647-0735 before submitting specimens for family testing (ie, known mutations).
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|451412||GeneSeq: Familial Arrhythmia||451331||Specimen Type:||31208-2|
|451412||GeneSeq: Familial Arrhythmia||451424||Results:||48003-8|
|451412||GeneSeq: Familial Arrhythmia||451323||Key Findings||53037-8|
|451412||GeneSeq: Familial Arrhythmia||451322||Additional Information||49549-9|
|451412||GeneSeq: Familial Arrhythmia||451321||Gene Information||51968-6|
|451412||GeneSeq: Familial Arrhythmia||451320||Tech Spec Results||51958-7|
|451412||GeneSeq: Familial Arrhythmia||451387||Seq Variants Detected||69548-6|
|451412||GeneSeq: Familial Arrhythmia||451409||Disclaimer||N/A|
|451412||GeneSeq: Familial Arrhythmia||451389||Director Review:||48672-0|
|451412||GeneSeq: Familial Arrhythmia||451428||51969-4|