Hereditary Hemochromatosis, DNA Analysis
Test Code: 511345
Performing Lab: LabCorp
CPT Code: 81256 001
Synonym
Cirrhosis; Iron Overload; Iron Storage
Specimen Type
Whole blood OR LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
Specimen Container
Lavender-top (EDTA) tube, yellow-top (ACD) tube OR LabCorp buccal swab kit
Volume
7 mL whole blood OR LabCorp buccal swab kit
Minimum Volume
3 mL whole blood OR two buccal swabs
Unacceptable Conditions
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
Temperature
Maintain specimen at room temperature or refrigerate.
Methodology
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.
| Result Code | Result Name | LOINC |
|---|---|---|
| 511349 | Hereditary Hemochromatosis | 34519-9 |
| 512257 | Reviewed by: | 56850-1 |
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