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Cystic Fibrosis Rare Variant Analysis, One Exon
Test Code10913
CPT Codes
81221<br />
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
4 mL whole blood collected in an EDTA (lavender-top or royal blue-top), ACD (yellow-top), or sodium heparin (green-top)
Minimum Volume
3 mL whole blood • 3 mL amniotic fluid • 10 mg chorionic villus biopsy
Other Acceptable Specimens
5 mL amniotic fluid, chorionic villi, cultured amniocytes collected in a T-25 flask • 20 mg chorionic villus biopsy
Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not freeze. 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
3) contact the laboratory genetic counselor before submission.
Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
Amniocyte culture: Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture media. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
1) parents must be documented carriers of one of the mutations tested
2) maternal blood or DNA must be available
3) contact the laboratory genetic counselor before submission.
Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
Amniocyte culture: Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture media. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by 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: 6 weeks
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. Detection of variant in one exon is useful in patients with a known familial variant that is not included in the general cystic fibrosis mutation panel.
