Hypertrophic Cardiomyopathy HyperCardi

Synonyms

Allscripts (AEHR) Order Name

Hypertrophic Cardiomyopathy (HCM) Panel

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

Clinical Info

Confirmation of clinical diagnosis in symptomatic patients
Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies
(i.e. Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis)

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood
Transport Temperature: Room Temperature
 

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Deletion/Duplication Analysis
Next-Gen Sequencing

Days Performed

TAT: 4 Weeks

Performing Laboratory

GeneDx

CPT

81439

PDM

1659904

Result Interpretation

See Report
 
Includes Genes: 

ACTC1, ACTN2, ALPK3, CAV3, CSRP3, FHL1, FLNC, GAA, GLA, JPH2, LAMP2, MTND1, MTND5, MTND6, MTTD, MTTG,

MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, PLN,

PRKAG2, RAF1, RIT1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL

Forms