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UW Health SMPH
American Family Children's Hospital

UW Hospital and Clinics Lab Test Directory

Test Name: Hemochromatosis Mutation Detection

Test Code(s): HHPCR / HCHHPCR

CPT Code(s): 81256

Methodology: Real-Time PCR followed by Melting Point Analysis

Clinical Significance: Identification of three mutations, C282Y, H63D and S65C, in the HFE gene most commonly associated with hereditary hemochromatosis.

Days Performed: Once a week.

Turnaround Time: Stat: Not available stat.
Routine: 10 days.


Specimen Requirements

Specimen: Blood

Collection Instructions: Testing requires referral screening.  Referral Screening Flow Sheet may be printed from UConnect or see link in Additional Information. Contact UWHC Test Referral office at (608)262-6388 prior to collection.

Collection Container: Preferred: Lavender top
Also Acceptable: Light blue top (3.2% NaCitrate)

Collection Volume: Preferred: 4 mL
Pediatrics: 2 mL

Sample Analyzed: Whole Blood

Volume Required: Preferred: 2 mL
Pediatrics: 1.2 mL

Specimen Transport: Transport specimen to the laboratory immediately. Refrigerate specimen if not delivered immediately. Specimen must be received within 7 days of collection date.

Stability: Ambient: 7 days
Refrigerated: 3 weeks
Frozen: Not acceptable


Interpretation

A written interpretive report is provided by the laboratory.

Additional Information:

The performance characteristics of this test were validated by UWHC Clinical Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. The UWHC Clinical Laboratories is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.

 

A professional fee is associated with this test.

 

Referral Screening Flow Sheet

Hemochromatosis, HFE gene mutation

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