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Alpha Thalassemia Gene Mapping

Item Value
Available Stat? No
Utilization Guidelines This test can only be ordered after "Alpha Thalassemia mutations" testing (code ATHL) has been performed.

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 ATHSB
Test group Thalassemia
Performed by Medical Genomics - Molecular Diagnostics
In House Availability Run 1x per week as needed, Wednesday or Friday, day shift only
Method PCR and gel electrophoresis
Collection Instructions Do not freeze cultured cells. Keep at refrigerator temp. for overnight or longer storage.

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
Blood 5 ml
Amniotic fluid 20 ml
Cultures amniocytes 2 T25 flasks
Chorionic villi 20 mg
Cultured chorionic villi 2 T25 flasks
Sample type EDTA whole blood
Amniotic fluid
Cultures amniocytes
Chorionic villi
Cultured chorionic villi
Preferred volume
Blood 5 ml
Amniotic fluid 20 ml
Cultures amniocytes 2 T25 flasks
Chorionic villi 20 mg
Cultured chorionic villi 2 T25 flasks
Min. Volume
Blood 2 ml
Amniotic fluid 20 ml
Cultures amniocytes 2 T25 flasks
Chorionic villi 20 mg
Cultured chorionic villi 2 T25 flasks
Processing notes Do not centrifuge, do not freeze, refrigerate. Ship at room temperature.
Normal range Negative
No alpha globin gene deletions detected.
No alpha globin gene triplication detected
Synonyms Alpha thalassemia-1; Alpha thalassemia-2
Turn around times 10-14 days
Additional information An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

This is a potential follow up assay to the "Alpha thalassemia mutations" test (test code: ATHL), which detects common alpha globin gene deletions.

This test can only be requested after the ATHL test has been performed on an individual.

The ATHLSB test, which uses the Southern blot methodology, will detect individuals with a triple alpha globin gene configuration that can result in alpha to beta globin chain imbalance thus resulting in alpha thalassemia. This test may also reveal alpha globin gene deletions not covered by the ATHL assay. Clinical suspicion of alpha thalassemia due to a triplicated alpha globin gene locus or an uncharacterized deletion is usually best suspected in an individual with a negative ATHL test, a normal Hb A2 and absence of iron deficiency. However, beta thalassemia and/or iron deficiency may co-exist and mask alpha thalassemia.

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 81404
LDT or Mod FDA? Yes
Last Updated 6/14/2016 3:51:31 PM
Entry Number 1374
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