Hemochromatosis, DNA Testing
| Order Code: | HEMPCR |
| Order Form: | Molecular Genetics General Consult Requisition |
Specimen:
Whole Blood
Collection Medium:
 |
| Lavender top tube 3 mL (EDTA) |
Minimum:
Adult minimum: 3 mL whole blood in lavender top tube (EDTA)
Children minimum: 2 mL whole blood in lavender top tube (EDTA)
Testing on smaller volumes than those requested will be attempted.
However, in some cases, small blood volumes may compromise the ability
to perform testing.
Testing requires a dedicated collection tube.
Testing
Schedule:
Weekly
Analytic Time:
2 weeks
Reference Range:
By report
Direct detection of two mutations, C282Y and H63D, in the HFE gene.
Comments:
This test is useful for diagnosis of symptomatic patients, presymptomatic diagnosis in asymptomatic patients, and carrier testing in healthy adults.
Methodology:
Polymerase Chain Reaction: Amplification refractory mutation system (ARMS).
Sample
Processing:
Do Not Centrifuge.
Label transport tube with two patient identifiers, date and time of collection.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Submit whole blood in original container.
Label transport tube with two patient identifiers, date and time of collection.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Submit whole blood in original container.
Sample
Storage:
Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, or weekends, or holidays.
Transport
Instructions:
Place requisition into outside pocket of bag.
Recommend express mail or equivalent if not on courier service.
Ship at ambient temperature.
Recommend express mail or equivalent if not on courier service.
Ship at ambient temperature.
CPT Code:
83912, 83901, 83900, 83890, 83894
See Additional Information:
Hereditary Hemochromatosis Information
Hereditary Hemochromatosis Information