Labcorp #252307 Hypertrophic Cardio

252307

This test is a two-tiered reflexive test. The first tier of this test covers all nucleotides of genes TNNT2, MYH7, and MYBPC3, plus at least two and typically 20 or more nucleotides upstream and downstream of each coding exon, covering the conserved donor

Whole blood

2 mL

DNA is accepted (Call Correlagen at 781-647-0604 for DNA collection information.)

For all Correlagen tests, specimens must be accompanied by a completed consent form. In the case of family tests (ie, known mutations), Correlagen requires the result report of the first patient tested in the family (the index case), if not performed at Correlagen. Other family members are subsequently tested for the specific mutation found in the first patient tested

Lavender-top (EDTA) tube

Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.

Maintain specimen at room temperature

Container broken or leaking; container not labeled or label not legible

"This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure
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Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.

Confirm a clinical diagnosis of HCM; identify presymptomatic family members, guiding prophylactic measures. Hypertrophic cardiomyopathy (HCM) is a common dominantly inherited genetic disease characterized by a thickening of the heart muscle that can lead to severe cardiac problems such as progressive heart failure, embolic stroke, and sudden cardiac death. Mutations in TNNT2, TNNI3, TPM1, MYBPC3, MYH7, MYL2, MYL3, ACTC account for about 60% of HCM, and mutation carriers typically have 40% to 50% risk of developing symptoms. Genetic testing can confirm a clinical diagnosis of HCM and allow for accurate identification of presymptomatic mutation carriers within affected families.