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Hypertrophic cardiomyopathy (basic panel): gene panel

Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis (optional)

SNS Code

34900

OMIM
Gene Number

25

Test / Mutation List

ACTC1, ACTN2, CSRP3, GLA, KRAS, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, NEXN, PLN, PRKAG2, PTPN11, RAF1, RIT1, SOS1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR

TAT

3 to 4 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated

For other samples types, please contact the laboratory.