| Test Information |
| Test Name |
Hemochromatosis Genotype |
| Lab (Location) |
Mount Sinai Hospital |
| Category |
Hematology |
| Subcategory |
Hereditary Hemochromatosis |
| Gene/Platform/Region List |
HFE (c.187C>G), HFE (c.845G>A)
|
| Test type |
Targeted Variant |
| Samples Accepted |
Blood, DNA |
| Indications Diagnosis |
Diagnosis, Carrier / Cascade Testing |
| Test Methodology |
CNV, Sequencing |
| Methodology Notes |
Targeted Mutation: p.Cys282Tyr, p.His63Asp
|
| Diseases/Conditions |
Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis
|
