Hemochromatosis DNA Screen

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General Information

Lab Name
Hemochromatosis DNA Screen
Lab Code
HEMDNA
Epic Ordering
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
Forms & Requisitions

Genetics Requisition

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

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.

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
Guidelines

Ordering & Collection

Specimen Type
Blood, Buccal cells for hematopoietic transplant patients, Buccal cells (approval required, see "collection"). 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.
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.

BUCCAL SWABS (only when received within 24 hours from collection. Samples received outside of this window will be rejected. Contact the Genetics lab to coordinate testing prior to specimen collection at (206) 598–6429 M–F (7:30 AM – 4:00 PM)).

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.

Quantity
requested: Entire specimen
minimum: 1 mL whole blood

Processing

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: 206-598–0304
Lab email: genelab@uw.edu

Tel (EXOME only): 206-543-0459

Manager

Rebecca Gaulin, rgaulin@uw.edu

Genetic Counselors

Angela Jacobson, MS, LGC agibson@uw.edu
Sarah Paolucci, MA, MS, LGC, spaolucc@uw.edu
Jenna Huey, MS, LGC, jlhuey@uw.edu
Sandra Coe, MS,LGC, scoe20@uw.edu
Dru Leistritz, MS, LGC, dru2@uw.edu (EXOME testing only)

Variant Review Scientist

Ankita Jhuraney, PhD

Faculty

Colin C. Pritchard, MD, PhD
Brian H. Shirts, MD, PhD
Christina Lockwood, PhD, DABCC
Stephen Salipante, MD, PhD
Eric Konnick, MD, MS
Niklas Krumm, MD,PhD
Vera Paulson, MD, PhD
Jillian Buchan, PhD, FACMG

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