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Beta Thalassemia mutations (incl. HbS, HbC, HbE)

Item Value
Clinical Questions Does my patient have thalassemia?
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 BTHL
Test group Thalassemia
Performed by Medical Genomics - Molecular Diagnostics
In House Availability Run 2x per week, Tuesday & Thursday, day shift only
Method PCR followed by reverse dot blot hybridization with 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, Amniocentesis, CVS
Preferred volume
Blood 3 mL
Amniotic fluid 5 mL
CVS 10 mg
Min. Volume 0.5 mL blood
Processing notes Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Normal range Negative
Synonyms Cooley's anemia; Hemoglobin S; HbS, Hgb S; Hemoglobin C; HbC; Hgb C; Hemoglobin E; HbE; Hgb E
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.

DNA testing for beta thalassemia mutations is valuable for confirming hematological suspicion of beta-thalassemia (e.g. anemia, low MCV, elevated Hgb A2), for co-existence with iron deficiency and when prenatal diagnosis is contemplated. Iron studies, may also be of value. Include results of these tests with the thalassemia request or indicate if they were ordered at UCSF.

If hemoglobin electrophoresis reveals an elevated Hb A2 and the results of the BTHL test are negative, then further testing by DNA sequencing of the beta globin gene can be performed at an additional charge.

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

Click here for a list of mutations screened for.

These tests were developed and their performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. They have not been cleared or approved by the U.S. FDA

Click here for information on beta-globin gene sequencing
CPT coding 81401, 81479
LOINC code 21691-1
LDT or Mod FDA? Yes
Last Updated 3/13/2017 3:17:19 PM
Entry Number 894
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