Cystic Fibrosis D1152H Mutation Analysis [15335X]

Message
For Specimen Integrity during Extreme Weather see the “Lockbox Usage in Extreme Weather” document at the top of this page.


Test Code
CYSTIC


Alias/See Also
15335


CPT Codes
81221

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
5 mL whole blood collected in an EDTA (lavender-top), or acid citrate dextrose ACD-B (yellow-top) tube


Minimum Volume
3 mL whole blood • 3 mL culture cells (confluent) • 10 mg chorionic villi • 100 ng Extracted DNA


Other Acceptable Specimens
Whole blood collected in an acid citrate dextrose ACD-A (yellow-top), or sodium or lithium heparin (green-top) tube • Amniotic fluid in a sterile leak-proof container • 5 mL cultured cells (confluent) in T-25 flask • chorionic villi or Extracted DNA


Instructions
Forward tissue specimens immediately to the Molecular Genetics Laboratory; do not hold.

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. FORWARD CELLS TO LABORATORY IMMEDIATELY!

Extracted DNA: (reference ranges do not apply)


Transport Temperature
Room temperature


Specimen Stability
Whole Blood:
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Amniotic Fluid (acceptable):
Room temperature: 8 days
Refrigerated: Unacceptable
Frozen: Una


Methodology
Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension

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: Thurs; Report available: 8 days


Reference Range
See Laboratory Report


Clinical Significance
This test detects a mutation primarily present in Ashkenazi-Jewish individuals. It can be detected in asymptomatic carriers as well as symptomatic (mild) CF patients.


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



Last Updated: November 29, 2021


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.