Sep 9, 2015




Clinical Hub,Tools & Resources,UWHC Lab Test Directory,Molecular Diagnostics

Hemochromatosis Mutation Detection

Hemochromatosis Mutation Detection (HCHHPCR) Molecular Diagnostics Lab Test

Name: Hemochromatosis Mutation Detection

Test Name: Hemochromatosis Mutation Detection

Health Link Test Code: HCHHPCR

LIS Test Code: HHPCR

CPT Code(s): 81256

Methodology: Real-Time PCR followed by Melting Point Analysis

Clinical Information:

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

Days Performed: Once a week.

In-Lab Turnaround Time: 10 days.

Stat In-Lab Turnaround Time: Not available stat.

Specimen: Blood

Collection Container: Lavender top

Also Acceptable: Light blue top (3.2% NaCitrate)

Collection Instructions:

Ordering source must fill out Referral Screening Flow Sheet prior to specimen collection. Contact UWHC Test Referral office at (608) 262-6388 prior to collection.

Collection Volume: 4 mL

Pediatric Collection Volume: 2 mL

Stability Ambient:

7 days

Stability Refridgerated:

3 weeks

Stability Frozen:

Not acceptable

Sample Analyzed: Whole Blood

Testing Volume: 2 mL

Pediatric Testing Volume: 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.


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.