Laboratory Test Guide

Hemochromatosis DNA Screen

General Information

Lab Name

Hemochromatosis DNA Screen

Lab Code

HEMDNA

Epic Name

Hemochromatosis HFE Mutations Detection

Description

Hereditary hemochromatosis is an autosomal recessive disease that is very common among people of European ethnicity. The HFE gene was identified as the cause of this disease. In Northern European patients with a diagnosis of hereditary hemochromatosis, about 80% have two copies of a variant in this gene referred to as Cys282Tyr or C282Y. A second variant, His63Asp or H63D, occurs in a smaller percentage of these patients and is associated with a lower penetrance (lower likelihood of developing clinical disease). The Cys282Tyr variant is very uncommon in Asian and African populations, so this test is less useful in people from those ethnic backgrounds.

Indications for testing include:

  • Evaluate suspected hemochromatosis
  • Differential diagnosis of liver diseases with increased iron loading
  • Testing relatives in families already known to carry HFE mutant alleles
  • Distinguish homozygotes from heterozygotes in hereditary hemochromatosis families

References

  • Feder JN, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996, 13:399-408. 8696333
  • Barton JC, Edwards CQ. HFE hemochromatosis. In: GeneReviews: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 2000 Apr 3 [updated 2018 Dec 6] 20301613
  • Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood 2003, 101:3347-50. 12707220
  • Pietrangelo A. Hereditary hemochromatosis--a new look at an old disease. N Engl J Med 2004, 350:2383-97. 15175440

Synonyms

C282Y & H63D Mutations, HFE, HFE Gene, HLA-H, Iron Overload

Components

Code Name
HMDNAR Hemochromatosis Results
HMDNAI Hemochromatosis Interpretation
HMDNAM Hemochromatosis Method
HMDNAD Hemochromatosis Director

Interpretation

Method

This test detects both normal and C282Y and H63D variant (HGVS nomenclature NM_000410.3 c.845G>A, p.C282Y and HGVS NM_000410.3 c.187C>G, p.H63D) alleles in the HFE gene by next-generation sequencing. This test was developed and its performance characteristics determined by the Department of Laboratory Medicine at the University of Washington.

Reference Range

See individual components

Ref. Range Notes

No mutation detected.

Guidelines

Ordering & Collection

Specimen Type

Blood NOTE: Formalin-fixed paraffin-embedded tissues are not an acceptable specimen. For other specimen types contact the Genetics Lab (598-6429) or the laboratory medicine resident on-call. Saliva- contact laboratory for appropriate collection kit.

Collection

BLOOD:

  • Adult: 3 mL LAVENDER TOP tube
  • Child: 2 mL LAVENDER TOP tube
  • Also acceptable: YELLOW TOP (ACD) tube
  • Unacceptable: Heparin green top tubes.

Saliva: Contact the laboratory for a collection kit.

Forms & Requisitions

Genetics Requisition

Handling Instructions

Blood: Refrigerate whole blood up to 1 week.

Outside Laboratory: Ship whole blood either refrigerated or ambient to arrive within 1 week of specimen collection.

Saliva: contact laboratory for collection kit. Keep at room temperature.

Quantity

requested: Entire specimen
minimum: 1 mL whole blood

Processing

Performance

LIS Dept Code

Genetics (GEN)

Performing Location(s)

UW-MT Genetics

Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195

Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-616-4584
Lab email: cgateam@uw.edu

Tel (EXOME only): 206-543-0459

Faculty
Jillian Buchan, PhD, FACMG
Runjun Kumar, MD, PhD
Regina Kwon, MD, MPH
Christina Lockwood, PhD, DABCC, DABMGG
Abbye McEwen, MD, PhD
Colin Pritchard, MD, PhD
Vera Paulson, MD, PhD
Eric Konnick, MD, MS
He Fang, PhD

Frequency

Performed weekly. Results within 2 weeks.

Available STAT?

No

Billing & Coding

CPT codes

81256

Billing Comments

For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.

LOINC

21697-8

Interfaced Order Code

UOW172