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
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.
Collection Container: Lavender top
Also Acceptable: Light blue top (3.2% NaCitrate)
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
Sample Analyzed: Whole Blood
Testing Volume: 2 mL
Pediatric Testing Volume: 1.2 mL
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.
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.