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Hereditary Hemochromatosis DNA Mutation Analysis : 35079
Test CodeHHDMAQ or 35079
Alias/See Also
HLA-H; HFE; Hemochrom HFE Gene Analysis; Hemochromatosis Hereditary; H63D; C282
CPT Codes
81256
Instructions
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport Container
Transport 5 mL whole blood, (Min: 3 mL).
Transport Temperature
Refrigerated.
Specimen Stability
Ambient: 8 days; Refrigerated: 8 days; Frozen: Unacceptable
Methodology
Fluorescent Restriction Fragment Length Polymorphism, Polymerase Chain Reaction (PCR)
Setup Schedule
Monday - Saturday
Report Available
8 - 10 days (From receipt at performing laboratory)
Limitations
Expression of C282Y/C282Y homozygosity is variable. Some individuals who fail to meet the diagnostic criteria for hemochromatosis are homozygous for the gene. If these mutations are not found by the testing procedure, it does not mean that the risk of carrying or developing HH is not present. It simply means that these specific mutations have not been found, although other mutations may be present. It is also possible that such a patient may have secondary hemochromatosis, due to nongenetic causes, that would not be detected by this test.
This test was developed and its performance characteristics have been determined by Quest Diagnostics. Performance characteristics refer to the analytical performance of the test.
This test was developed and its performance characteristics have been determined by Quest Diagnostics. Performance characteristics refer to the analytical performance of the test.
Reference Range
By report.
Clinical Significance
Hereditary Hemochromatosis (HH) is an inherited disorder wherein the body accumulates excess iron. This test establishes HH diagnosis in individuals with abnormal iron study results and identifies at-risk family members.
Performing Laboratory
Quest Diagnostics
