Hypertrophic cardiomyopathy (extended panel): gene panel
Speciality(ies) / Other Speciality(ies)
Cardiology
Pediatrics Cardiology, Internal Medicine, Reumatology
Test / Mutation List
A2ML1, AARS2, ACADVL, ACTA1, ACTC1, ACTN2, AGL, ALPK3, ANKRD1, ATP5E, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CAV3, CBL, COA5, CPT2, CRYAB, CSRP3, DES, ELAC2, FHL1, FHOD3, FLNC, FOXRED1, FXN, GAA, GATA4, GLA, GLB1, GUSB, HRAS, JPH2, KCNQ1, KLF10, KRAS, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MRPL3, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NEXN, NF1, NRAS, OBSCN, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, RASA1, RIT1, RRAS, RYR2, SCO2, SHOC2, SLC25A3, SLC25A4, SOS1, SOS2, SPRED1, TCAP, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TSFM, TTN, TTR, VCL
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.