MOLECULAR STUDY DILATED CARDIOMYOPATHY (MYH7, TNNT2, ACTC1, TPM1) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3898

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premature death. In many cases the disease is inherited and is termed familial DCM (FDC). FDC may account for 20-48% of DCM. FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal and sarcomeric proteins in the cardiac myocyte. Clinical genetic testing has been developed for some FDC genes and will be increasingly utilized for evaluating FDC families. Through the use of family screening by pedigree analysis and/or genetic testing, it is possible to identify patients at earlier, or even presymptomatic stages of their disease. Patients with severe heart failure, severe reduction of the functional capacity and depressed left ventricular ejection fraction have a low survival rate and may require heart transplant.
Links:
OMIM Entry - #601494 - CARDIOMYOPATHY, DILATED, 1D; CMD1D
OMIM Entry - #611878 - CARDIOMYOPATHY, DILATED, 1Y; CMD1Y
OMIM Entry - -102540 - ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1
OMIM Entry - -160760 - MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
Orphanet- Familial isolated dilated cardiomyopathy
OMIM Entry - #613424 - CARDIOMYOPATHY, DILATED, 1R; CMD1R
OMIM Entry - #613426 - CARDIOMYOPATHY, DILATED, 1S; CMD1S
OMIM Entry - -191010 - TROPOMYOSIN 1; TPM1
OMIM Entry - -191045 - TROPONIN T2, CARDIAC; TNNT2

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