Last Modified:
8/12/2021 6:08:12 AM
Medical Necessity Documentation:
Client Notes:
Patient Preparation:
Specimen Requirements:
5.0 mL Whole Blood in a Lavender Top Tube - EDTA
Collection Instructions:
Minimum Volume:
3.0 mL Whole Blood
Transport & Storage: Temperature/Stability:
8 days Ambient
8 days Refrigerated
Unacceptable Frozen
Specimen stability is crucial. Store and ship room temperature immediately.
Rejection Criteria:
Frozen
Reference Range:
Refer to Interpretive Results
Critical Ranges:
Test Comments:
Methodology:
Fluorescent Restriction Fragment Length Polymorphism • Polymerase Chain Reaction (PCR)
Clinical Significance:
Hereditary Hemochromatosis DNA Mutation Analysis - Hereditary Hemochromatosis is an autosomal recessive disease that results in an abnormal build-up of iron in the body. The C282Y and H63D are among the most common mutations in patients with hereditary hemochromatosis. Penetrance of the mutations (phenotypic disease), including by individuals with compound heterozygous mutations, is variable
Documentation:
Custom Panel:
No
PRODUCTION SCHEDULE
Turn Around Time:
8 days
Days Performed:
Monday, Tuesday, Wednesday, Thursday, Friday, Saturday
Sites Performed:
Quest - Chantilly to San Juan Capistrano
PHL Test Code:
HHDNA
EPIC Test Code:
LAB2687
Send Out Test Code:
35079
Alternate Test Names:
C282; Hemochrom HFE Gene Analysis; Hereditary Hemochromatosis DNA Mutation Analysis ; HFE; HH63D; HLA-H
Included Tests:
CPT Coding:
81256
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