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Alpha Thalassemia point mutations

Item Value
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 HBCS
Test group Thalassemia
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 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
Amount to Collect 3 mL blood
Sample type EDTA whole blood
Preferred volume 3 mL blood
Min. Volume 0.1 mL blood
Processing notes If a tube other than a lavender top is received, give the sample to Chemistry [Molecular Diagnostics, CB] to determine whether the assay can be run.

Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Normal range No Mutation Detected
Synonyms PCR; Hemoglobin Constant Spring; HbCS; Hemoglobin Quong Sze; Hemoglobin Pakse; Hgb CS; Hgb Pakse; Hb Pakse; Hgb Quong Sze; Hb Quong Sze; Hgb Constant Spring
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.

This assay screens for specific point mutations in the alpha chain genes such as Hemoglobin Constant Spring, Hemoglobin Quong Sze and Hemoglobin Pakse.

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.
CPT coding 81257
LOINC code 21687-9
LDT or Mod FDA? Yes
Last Updated 1/22/2014 8:59:46 AM
Entry Number 443
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