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HelpTest ID BLOD0365 Hereditary Hemochromatosis, HFE Variant Analysis, Varies
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 2.5 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient 30 days
Additional Information: Due to lower concentration of DNA yielded from saliva, it is possible that additional specimen may be required to complete testing.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521)
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.
Secondary ID
614573Useful For
Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults
Testing of individuals with increased transferrin-iron saturation in serum and serum ferritin
Predictive testing of individuals who have a family history of HH, in coordination with appropriate genetic counseling
This test is not recommended for population screening.
Testing Algorithm
For more information see Hereditary Hemochromatosis Algorithm.
Special Instructions
Method Name
Droplet Digital Polymerase Chain Reaction (ddPCR)
Reporting Name
Hereditary Hemochromatosis HFE TestSpecimen Type
VariesSpecimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretative report will be provided.
Day(s) Performed
Monday through Friday
Report Available
6 to 7 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81256-HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (C282Y and H63D)
Coverage Limitations
This test has limited coverage - please submit Commercial Insurance Patient Waiver (Non-Medicare) if applicable.
Preauthorization is required for this test.
SANFORD LABORATORY INTERFACE BUILD INFORMATION
| Result Code | Result Code Description |
|---|---|
| 18927 | Result Summary |
| 18928 | Result |
| 18929 | Interpretation |
| 18930 | Specimen |
| 18931 | Source |
| 18932 | Method |
| 18933 | Released By |