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Cystic Fibrosis, common mutations

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 MCFM
Test group Cystic Fibrosis
Performed by Medical Genomics - Molecular Diagnostics
In House Availability Run 2x per week, Monday - Friday day shift only
Method Multiplex PCR, RDB
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
Whole blood 3 mL
Cell culture T25 flasks, 80% confluent x2
Amniotic fluid 10 mL
Chorionic villi 10 mg
Sample type Whole blood, Tissue culture, Amniotic fluid, Chorionic villi
Preferred volume
Whole blood 3 mL
Cell culture 2 T25 flasks, 80% confluent
Amniotic fluid 10 mL
Chorionic villi 10 mg (2-3 mm diameter)
Min. Volume 0.5 mL for whole blood
UCSF Rejection Criteria Insufficient sample provided. Samples collected in outdated blue top vacutainer.
Processing notes Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Normal range No mutation detected
Synonyms CF mutations; CF polymorphisms; F508 deletion; Delta F508 deletion; Phenylalanine 508 deletion; R553X mutation
Stability Whole blood is stable refrigerated for 1 week.
Turn around times 7-10 days
Reflex? 5/7/9T Polymorphism test is performed if sample shows R117H mutation
Additional information An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

A total of 34 mutations and the F508C polymorphism are included in this assay, which detects CF mutations in 88% of Caucasians, 94% of Ashkenazi Jewish decent, 72% of Hispanics and 65% of African Americans.

The UCSF CF panel encompasses all the ACMG recommended 23 mutations and 11 additional ones. Compared to the California CF newborn screen, the UCSF panel overlaps with 15 ACMG mutations and 2 common Hispanic mutations. A newborn who is suspected of having CF and tests negative or heterozygous by the State program might benefit from additional mutations screened for at UCSF.
Click here for comparison of UCSF, California State panels and ACMG recommended mutations

A reflex test for the 5/7/9T polymorphism is recommended to evaluate the association of CBAVD with CF, if the patient is diagnosed with the R117H mutation.

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 81220
LOINC code 21654-9
LDT or Mod FDA? Yes
Last Updated 8/7/2014 9:52:27 AM
Entry Number 286
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