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| UWHC Lab Test Details | |
|---|---|
| Test Name | Hemochromatosis Mutation Detection |
| Test Code(s) | HCHHPCR |
| Approval Required | Testing request needs faculty review. Contact the UWHC Test Referral Office at (608)262-6388 prior to collection. |
| 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. |
| Collection Requirements | |||||
|---|---|---|---|---|---|
| Specimen | Blood | ||||
| Collection Container |
| ||||
| Collection Instructions | A documented prior authorization will need to be present in Health Link before testing can be performed. The ordering source should consult the Genetic Testing at UW Health Clinical Laboratories document on U-Connect prior to ordering testing. Contact UWHC Referral office at (608) 262-6388 for questions. | ||||
| Collection Volume | 4 mL | ||||
| Pediatric Collection Volume | 2 mL | ||||
| Specimen Processing Requirements | |||||||
|---|---|---|---|---|---|---|---|
| Stability |
| ||||||
| Sample Analyzed | Whole Blood | ||||||
| Testing Volume | 2 mL | ||||||
| Pediatric Testing Volume | 1.2 mL | ||||||
| Specimen Processing | Do not centrifuge or freeze sample. | ||||||
| Outreach Specimen Processing | Refrigerate specimen. Do not freeze or centrifuge. | ||||||
| Specimen Transport | Transport specimen to the laboratory immediately. Refrigerate specimen if not delivered immediately. Specimen must be received within 7 days of collection date. | ||||||
| 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.(CPT Code G0452). |
