Cystic Fibrosis DNA Analysis, Fetus

Test Code
10226


CPT Codes
81220, 88235

Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.


Preferred Specimen
20 mL amniotic fluid submitted in a sterile, leak-proof, transport container or tube


Minimum Volume
10 mL amniotic fluid • 10 mg chorionic villi


Other Acceptable Specimens
20 mg chorionic villi, submitted in a sterile tube, or (2) T-25 flasks, filled with sterile culture medium


Instructions
Please indicate the ethnicity of the patient.

For prenatal diagnosis with a fetal specimen:
1) Parents must be documented carriers of one of the mutations tested.
2) Maternal blood or DNA must be available to rule out maternal cell contamination (order test Maternal
Cell Contamination Study, STR Analysis ).
3) Contact the laboratory genetic counselor before submission.

Amniotic fluid: Normal collection procedure. 10-20 mL amniotic fluid or two sterile T25 flasks. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.

Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in a sterile tube filled with sterile culture medium or two sterile T25 flasks. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.


Transport Temperature
Room temperature


Specimen Stability
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable


Methodology
Multiplex Polymerase Chain Reaction • Massively Parallel Sequencing

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics Nichols Institute. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule
Set up: As needed; Report available: Minimum 7 times per week


Reference Range
See Laboratory Report


Clinical Significance
Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent, with an incidence of approximately 1 in 3300 births and a carrier rate of 1 in 29. This test is appropriate to determine if the fetus has inherited known mutations, limited to the general cystic fibrosis mutation panel, from both parents.


Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042




The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.