Cystic Fibrosis (CF): CFTR Prenatal Test (Full Sequencing)

CPT: 81223
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Test Details

Limitations

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants; it may be affected by allele dropout; it may not allow determination of the exact numbers of T/A or microsatellite repeats; and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

Specimen Requirements

Specimen

Amniotic fluid or chorionic villus sample (CVS) or cultured amniocytes or cultured villi. (Cultured cells are required for testing. Direct specimen can be submitted, but a culture fee may be included.) Maternal and paternal blood samples should be submitted on their own test request forms under Cystic Fibrosis (CF): CFTR (Known Mutation) [252760] (charges may apply). Maternal blood should be submitted for Maternal Cell Contamination [511402], required for fetal testing.

Volume

10 to 15 mL amniotic fluid or 25 mg CVS or two T25 flasks cultured amniocytes or two T25 flasks cultured villi and 7 mL whole blood for parental samples.

Minimum Volume

5 mL amniotic fluid or 10 mg CVS. Parental samples: 3 mL whole blood

Container

Sterile plastic conical tube or two confluent T-25 flasks for fetal testing. Lavender-top (EDTA) or yellow-top (ACD) tube for parental blood.

Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C .

Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container.

Clinical Information

Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order Cystic Fibrosis (CF): CFTR Prenatal Test (Known Mutation) [252885].

Please contact CMBP genetic counselors at 800-345-4363 prior to submitting prenatal sample for testing.

Note: Maternal and paternal blood samples are required for fetal testing.

References

Moskowitz SM, Chmiel JF, Sternen DL, et al. Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genet Med. 2008 Dec; 10:851-868.
Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004 Sep-Oct; 6(5):387-391.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252899 CFTR, Prenatal Full Sequence 38404-0 252898 CFTR, Prenatal Full Sequence 38404-0

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