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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

SNS Code

34900

OMIM
Gene Number

25

Test / Mutation List

ACTC1, ACTN2, ALPK3, CACNA1C, CSRP3, FHL1, FHOD3, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, RAF1, RIT1, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR

TAT

2 to 3 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.