Ordering Recommendation

Use to determine etiology of hypertrophic cardiomyopathy (HCM) in symptomatic individuals. Useful for presymptomatic testing in individuals with a family history of HCM or sudden cardiac death.

Mnemonic

HCM NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA)  or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: ACTC1, ACTN2, AGL, ALPK3, BRAF, CACNA1C, CSRP3, DES, FHL1, FLNC, GAA, GLA, HRAS, JPH2, KRAS, LAMP2, MAP2K1, MAP2K2, MYBPC3, MYH7, MYL2, MYL3, NRAS, PLN, PRKAG2, PTPN11, RAF1, RIT1, SOS1, TNNC1, TNNI3, TNNT2, TPM1, TTR

Hotline History

N/A

CPT Codes

81439

Components

Component Test Code* Component Chart Name LOINC
3001580 Hypertrophic Cardiomyopathy Interp
3001669 Hypertrophic Cardiomyopathy Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • familial hypertrophic cardiomyopathy (FHCM)
  • HCM
Hypertrophic Cardiomyopathy Panel, Sequencing