GeneSeq® Cardio: Familial Cardiomyopathy Panel

Also known as: Arrhythmogenic right ventricular dysplasia /cardiomyopathy, Dilated, hypertrophic and restrictive cardiomyopathy

Clinical Use

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Use

This test is used for diagnostic testing for cardiomyopathy, including dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular dysplasia/cardiomyopathy, restrictive cardiomyopathy and amyloid-associated cardiomyopathies such as transthyretin (TTR) amyloidosis and apolipoprotein A-1 amyloidosis. It also is used for presymptomatic testing for family members.

Special Instructions

Not provided.

Limitations

The technologies used in this test do not detect germline mosaicism, large chromosomal aberrations including rearrangements and gene fusions, variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions. There may be changes over time in variant classification and/or interpretation as more information becomes available. False positive or false negative results can occur due to reasons such as rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships. This test was developed and its performance characteristics determined by Labcorp, and it has not been cleared or approved by the Food and Drug Administration.

Test Details

Methodology

NGS (Targeted)

Biomarkers

Mutation (67 genes)

ABCC9ACTC1ACTN2ALMS1ALPK3ANKRD1APOA1BAG3CALR3CAV3CRYABCSRP3DESDMDDNAJC19DOLKDSC2DSG2DSPDTNAEMDEYA4FHL1FKRPFKTNFLNCGLAJPH2JUPLAMA4LAMP2LDB3LMNAMYBPC3MYH6MYH7MYL2MYL3MYLK2MYOTMYOZ2MYPNNEBLNEXNPDLIM3PKP2PLNPRDM16PRKAG2RBM20RYR2SCN5ASGCDSLC25A4TAFAZZINTCAPTGFB3TMEM43TMPOTNNC1TNNI3TNNT2TPM1TRIM63TTNTTRVCL

LOINC Codes

Result Codes

48018-6 - Gene studied ID
42784-9 - Ethnic Background Stated
31208-2 - Specimen source
89993-0 - Clinical genetics Counseling note
42349-1
48003-8 - DNA seq var ID
53039-4 - Gene dis anl carrier interp-Imp
8262-8 - Service Cmnt 02-Imp
62385-0 - Recommendation Patient Doc-Imp
55752-0 - Clinical info
8251-1 - Service Cmnt-Imp
49549-9 - Ref lab test method
75608-0 - Citation Ref Lab Test
72486-4 - Lab director name Provider
51969-4 - Gene analysis narr rpt Doc

Result Turnaround Time

14-21 days

Specimen

Whole Blood

Volume

8.5 mL

Minimum Volume

3 mL

Container

Yellow-top (ACD-A) tube or lavender-top (EDTA) tube

Collection Instructions

Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.