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Test Code LAB3142 Hemochromatosis DNA Screen

Clinical System Name

Hemochromatosis DNA Screen

Synonyms

HemDNA

Description

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.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 2-3.0 mL

Minimum Vol: 1.0 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 20-30 ul of 100ng/ul concentration

 

Alternative Specimen (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing

Processing Instructions

Reject due to: Dark Green/Sodium Heparin tube

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage location: Store whole blood affixed with a large Cerner label in the CPA refrigerator, Send Outs rack.

 

Off-site collection: Do not spin, ship refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp

3 d
  Refrigerated 7 d
  Frozen

Unacceptable
Extracted DNA Room temp 3-4 d
  Refrigerated 1 y
  Frozen Indefinitely

 

Availability

STAT Performed TAT
N

Weekly

  2 w

 

Performing Laboratory

University of Washington Medical Center

Department of Laboratory Medicine

Genetics Lab
1959 NE Pacific St, NW220
Seattle, WA 98195
 

Phone Number: (206) 520-4600

Department

Department: Send Outs/Genetic

Phone Number: (206) 987-2563

Reference Range

Interpretive report provided.

Methodology

Method:

Next Generation Sequencing

Special Instructions

UWMC

 

Clinical Utility

HFE Hemochromatosis GeneReviews

Send Out Instructions

Reference Test Name:

Hemochromatosis DNA Screen
Reference Test Number:

HEMDNA
Instructions:

Send out Monday - Friday with the UW courier.