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Hemochromatosis, Hereditary

Item Value
Clinical Questions Does my patient have hemochromatosis?
Approval req'd? No
Available Stat? No
Utilization Guidelines Tests with long turn-around times (ie. Molecular based tests and Microarrays) should only be requested on an inpatient if the result is going to affect the inpatient management.

If the patient will likely be discharged before the result will be available, the test should be requested after discharge. (NOTE: UCSF Medical Center is not reimbursed for inpatient testing).

An exception to the above may be appropriate if there is a possibility the patient will not survive to be discharged and the information is important for diagnosis and/or family decisions/management (ie. recurrence risk).
Test code HHEM
Performed by Medical Genomics - Molecular Diagnostics
In House Availability Run 1x per week as needed, Tuesday or Thursday, day shift only
Method PCR and allele-specific probes
Collection Instructions If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient.

Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.

For UCSF Samples (from remote sites) Click here for sample collection instructions

For NON-UCSF Samples Click here for Requisition form & Account set-up instructions. Note we only do institutional billing.
Container type Lavender top, (Blue (citrate) and Yellow (ACD) tops acceptable)
Amount to Collect 3 mL blood
Sample type EDTA whole blood, CVS, Tissue culture
Preferred volume 3 mL blood
Min. Volume 0.1 mL blood
UCSF Rejection Criteria Samples collected in outdated blue top vacutainer.
Processing notes Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Normal range No mutation detected.
Synonyms Cys282Tyr; G845A; C282Y; Hereditary Hemochromatosis; HFE mutation; HLA-H mutation
Turn around times 7-10 days
Additional information An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

The Cys282Tyr (G845A, C282Y) mutation in the HLA-H gene is found in 85% of the chromosomes of patients with Hereditary Hemochromatosis.

Homozygosity for the C282Y or compound heterozygosity for C282Y and H63D mutations is associated with increased risk of iron overload. Despite the high frequency of the C282Y mutation the clinical penetrance of the homozygous C282Y genotype is estimated to only be 1-4% (Beutler, BE, Blood 101:3347, 2003)

Heterozygosity or homozygosity for the H63D mutation does not appear to be clinically significant but may ben associated with elevated serum transferrin levels. (Gochee, et al., Gastroentroology 122:646, 2002)

Results are reported as "No Mutation Detected", "Heterozygous for Mutation" or "Homozygous for Mutation".

If a mutation is detected it is recommended that the patient seek genetic counseling.

Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.

See also Iron, Transferrin and Transferrin Saturation and Iron, Liver.
CPT coding 81256
LOINC code 48577-1
LDT or Mod FDA? Yes
Last Updated 1/22/2014 8:59:45 AM
Entry Number 440
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