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Test ID BLOD0365 Hemochromatosis HFE Gene Analysis, Blood

Useful For

Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults

           

HFE genetic testing is NOT recommended for population screening

 

Testing of individuals with increased transferrin-iron saturation in serum and serum ferritin

 

With appropriate genetic counseling, predictive testing of individuals who have a family history of HH

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 2.5 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.


Specimen Minimum Volume

0.5 mL

Reject Due To

No specimen should be rejected.

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Day(s) and Time(s) Performed

Monday through Friday; 2 p.m.

Analytic Time

6 days

Method Name

Polymerase Chain Reaction (PCR)-Based Assay Utilizing Agena Mass Array Platform

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81256-HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D)

Testing Algorithm

See Hereditary Hemochromatosis Algorithm in Special Instructions.

Reporting Name

Hemochromatosis HFE Gene Analysis, B

Reference Values

An interpretative report will be provided.

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen.

Sanford Laboratories - Fargo Additional Information:

SANFORD INTERFACE BUILD INFORMATION

Result Code Result Code Description
18927 Result Summary
18928 Result
18929 Interpretation
18930 Specimen
18931 Source
18932 Method
18933 Released By