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Cystic Fibrosis (CF): CFTR Prenatal Test (Full Sequencing)
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.
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)  (charges may apply). Maternal blood should be submitted for Maternal Cell Contamination , required for fetal testing.
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.
5 mL amniotic fluid or 10 mg CVS. Parental samples: 3 mL whole blood
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container.
In cases in which a known mutation can be documented, the physician may prefer to order Cystic Fibrosis (CF): CFTR Prenatal Test (Known Mutation) .
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.
|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|