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GeneSeq®: Cardio-Gene Specific Sequencing

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Updated on 01/29/2020
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Test Includes

Full gene sequencing for any one of the following genes: following genes: A2ML1, ABCA1, ABCC9, ACTA2, ACTC1, ACTN2, ALMS1, AKAP9, ANK2, APOA1, APOA2, APOC3, ATP1B1, BAG3, BRAF, CACNA1C, CACNB2, CASQ2, CAV3, CBL, CHD7, COL3A1, CSRP3, CTF1, DES, DNAJC19, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FKTN, GATA4, GLA, GPD1L, HRAS, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KRAS, LAMP2, LDB3, LDLR, LDLRAP1, LIG3, LMNA, LZTR1, MAP2K1, MAP2K2, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, NF1, NRAS, NKX2−5, NOS1AP, NPPA, PCSK9, PKP2, PLN, PON2, PRKAG2, PTPN11, RAF1, RASA2, RBM20, RIT1, RRAS, RYR2, SCN1B, SCN4B, SCN5A, SGCD, SHOC2, SLC2A10, SMAD3, SNTA1, SOS1, SOS2, SPRED1, TAZ, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, TTN, and VCL. Partial sequencing is performed for APOB (556bpof exon 26) and MED12 (c.3020A>G).

Special Instructions

When ordering please specify the name of the gene(s) to be sequenced. On ETRF, use Relevant Clinical Indication field to specify.

For all tests, specimens must be accompanied by a completed consent form. See sample physician office consent form: Consent for Genetic Testing (in Related Documents). In cases in which a known mutation can be documented, the physician may prefer to order test 451382, Mutation-specific Sequencing, Whole Blood (link in Related Information). Please call customer service at 866-647-0735 before submitting specimens for family testing (ie, known mutations).

Expected Turnaround Time

16 - 35 days

Specimen Requirements


Whole blood


10 mL whole blood or 30 mL if ordering multiple tests

Minimum Volume

3 mL


Yellow-top (ACD) tube or Lavender-top (EDTA) tube

Storage Instructions

Maintain specimen at room temperature. Specimen can be stored for brief periods at 4°C.

Causes for Rejection

Frozen specimen; container broken or leaking; container not labeled or label not legible; improper anticoagulant

Test Details


Full gene sequencing is available for all the genes included in any of the GeneSeq®: Cardio profiles: GeneSeq®: Cardio-Familial Arrhythmia Profile (451412); GeneSeq®: Cardio-Familial Cardiomyopathy Profile (451422); GeneSeq®: Cardio-Noonan Syndrome/RASopathies Profile (451441); GeneSeq®: Cardio-Familial Aortopathy Profile (451432); GeneSeq®: Cardio-Early-onset Coronary Artery Disease/FamilialHypercholesterolemia Profile (451416); GeneSeq®: Cardio-Familial Hypercholesterolemia Profile (452040); and GeneSeq®: Cardio-Familial Congenital Heart Disease Profile (451402). Links to these tests are in Related Information.


This analysis does not rule out germline mosaicism, the presence of large chromosomal aberrations (including deletions, insertions, and rearrangments), 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.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).


Mutation analysis is performed using the AgilentSure Select XT® enrichment method and the Illumina® next-generation sequencing platform. Regions of interest include all exons and splice junctions for each gene and limited regions for the following: APOB (556bp of exon 26) and MED12 (c.3020A>G). 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 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 databases are not reported.


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
452053 Gene Specific Sequencing 452054 Specimen Type 31208-2
452053 Gene Specific Sequencing 452055 Results: 48003-8
452053 Gene Specific Sequencing 452056 Key Findings 53037-8
452053 Gene Specific Sequencing 452057 Additional Information 49549-9
452053 Gene Specific Sequencing 452058 Gene Information 51968-6
452053 Gene Specific Sequencing 452059 Tech Spec Results 51958-7
452053 Gene Specific Sequencing 452060 Seq Variants Detected 69548-6
452053 Gene Specific Sequencing 452061 Disclaimer 62364-5
452053 Gene Specific Sequencing 452062 Director Review: 48672-0
452053 Gene Specific Sequencing 452063 PDF 51969-4

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CPT Statement/Profile Statement

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