HEREDITARY HEMOCHROMATOSIS DNA MUTATION ANALYSIS
General Information
HLAB/HOL Code: HHMA
UPHSM LIS Test #: 026734
Schedule:
Testing Time: 5-7 Days
Testing Lab: Labcorp
UPHSM LIS Test #: 026734
Schedule:
Testing Time: 5-7 Days
Testing Lab: Labcorp
Specimen Info
Only 1 specimen type required, unless otherwise specified
Volume: 7 mL or 2 swabs
Temperature: Ambient
Tube Type: Whole blood or Labcorp buccal swab kit
Collection Info:
Volume: 7 mL whole blood or Labcorp buccal swab kit
Minimum Volume: 3 mL whole blood or two buccal swabs
Container: Lavender-top (EDTA) tube, yellow-top (ACD) tube, or Labcorp buccal swab kit
Temperature: Ambient
Tube Type: Whole blood or Labcorp buccal swab kit
Collection Info:
Volume: 7 mL whole blood or Labcorp buccal swab kit
Minimum Volume: 3 mL whole blood or two buccal swabs
Container: Lavender-top (EDTA) tube, yellow-top (ACD) tube, or Labcorp buccal swab kit
Specimen Acceptability
Cause for Rejection:
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
Methods
Three variants are analyzed: c.845G>A (p.Cys282Tyr), commonly referred to as C282Y; c.187C>G (p.His63Asp), commonly referred to as H63D; c.193A>T (p.Ser65Cys), commonly referred to as S65C. DNA Analysis of the HFE gene (NM_000410.4) is performed by PCR amplification followed by restriction enzyme digestion analyses.
Clinical Utilities
Aids in the identification of individuals at risk for symptoms of hemochromatosis due to variants in the HFE gene.
CPT Codes
81256
* The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding
is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Reference Range
See laboratory report
