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Beta Globin Gene Deletions

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 BDEL
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 followed by gel electrophoresis
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 preferred. Blue top and Yellow top (ACD) acceptable
Amount to Collect
Blood 3 mL
Amniotic fluid 5 mL
CVS 10 mg
Sample type EDTA whole blood, Amniotic fluid, CVS
Preferred volume
Blood 3 mL
Amniotic fluid 5 mL
CVS 10 mg
Min. Volume
Blood 0.5 mL
Amniotic fluid 5 mL
CVS 10 mg
Processing notes Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Normal range Negative for deletions
Synonyms Beta thalassemia
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 will test for the presence or absence of 3 deletions in the beta globin gene. These deletions are predominantly found in Asian Indians, African-Americans and Filipinos. Testing for the 3 deletions in the beta globin gene is recommended when DNA testing for the common point mutations is negative. Thus, this test may serve as a reflex test in the event that the common point mutations test is negative or the presence of a single point mutation is not consistent with the patient's phenotype.
A third tier of DNA testing for beta thalassemia is DNA sequencing, which is a separate orderable test and is recommended when the common mutations and deletion assays are negative or incompletely informative.

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 81403
LDT or Mod FDA? Yes
Last Updated 8/7/2014 9:55:02 AM
Entry Number 1303
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