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Lab Manual for Moffitt-Long and Mount Zion

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Beta-globin DNA Sequencing

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 BGSQ
Test group Thalassemia
Performed by Medical Genomics - Molecular Diagnostics
In House Availability Run 1x per week as needed, Monday or Wednesday, day shift only
Method PCR followed by DNA sequencing
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, Amniotic fluid, CVS
Preferred volume
Blood 3 mL
Amniotic Fluid 5 mL
CVS 10 mg
Min. Volume 0.5 mL blood
Processing notes Notify the Molecular Diagnosis section of Chemistry, x31524, when a sample arrives before 1600 hours on weekdays.

Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Normal range Negative
Synonyms PCR
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 sequencing of the beta-globin gene is suggested only when testing with the allele-specific probes for beta thalassemia is negative and when Hb A2 levels are elevated or a variant hemoglobin identified by HPLC testing cannot be confirmed by conventional methods. It is also possible that the presence of iron deficiency may confound the Hb A2 levels, and thus DNA sequencing may be warranted if the beta thalassemia mutations test is negative. SEE NOTES: On Thalassemia Mutations Test.

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.

Click here for information on Beta-thalassemia mutation testing
CPT coding 81404
LOINC code 21689-5
LDT or Mod FDA? Yes
Last Updated 1/22/2014 8:59:40 AM
Entry Number 113
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