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Cystic Fibrosis CBAVD Poly T Mutation

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 POLT
Test group Cystic Fibrosis
Performed by Medical Genomics - Molecular Diagnostics
In House Availability Run 1x per week, Monday-Friday, day shift only
Method PCR and allele-specific probes
Collection Instructions If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient

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, Blue (citrate) and Yellow (ACD) tops acceptable
Amount to Collect 3 mL blood
Sample type EDTA whole blood, Tissue culture CVS
Preferred volume 3 mL blood
Min. Volume 0.5 mL blood
UCSF Rejection Criteria Samples collected in outdated blue top vacutainer.
Processing notes Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Normal range 5T allele not detected
Synonyms PCR; CF Poly T
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 test detects the 5T variant at the CFTR exon 9 splice site, which has been implicated in congenital bilateral absence of the vas deferens. The mutation can also affect the phenotype of some mild CF mutations.

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 81224
LOINC code 21654-9
LDT or Mod FDA? Yes
Last Updated 1/22/2014 8:59:43 AM
Entry Number 287
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