Cystic Fibrosis (CFTR) 165 Pathogenic Variants

Sunquest Code:CFT165  
Epic Code:LAB6896Epic Name:Cystic Fibrosis 165 Path Variants
Synonyms:Cystic Fibrosis Screening
Methodology:Polymerase chain reaction, fluorescence monitoring
Test Includes:The 165-variants test includes the 32 CF mutations recommended by the American College of Medical Genetics for population carrier screening.
Turnaround Time:Specimens are sent to reference laboratory Mon-Sat results are reported within 5-10 days.
Special Instructions:Patients must be counseled regarding this test before and after results are obtained. Counseling is available from a genetic counselor at 612-624-8948. Include the following information on the request form: patient ethnicity, provide indications for test, family history, referring physician's name and telephone number. A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.

The performance characteristics of this test were validated by ARUP Laboratories, Inc. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Associated Links:

Genetic Testing Consent Form

Collection Instructions

Specimen:Whole Blood
Optimal Volume:3 mL
Minimum\Peds Volume:1 mL
Container:Purple (EDTA) (Yellow (ACD, Solution A) tube available from laboratory)
Causes for Rejection:Plasma or serum. Specimens collected in sodium or lithium heparin tubes.

Processing and Shipping

Specimen Processing:Do not process. Store in refrigerator.
Shipping Instructions:Ship at refrigerated temperature. Protect from extreme temperatures.
Stability:Stability: Room temperature - 3 days; refrigerated - 2 weeks; frozen - 1 month
Test Performed at or Referral Lab Lab Sendouts  (ARUP)
Referral Lab number:2013661


Reference Range:

By report.


Use:Diagnostic testing for cystic fibrosis. Carrier screening for cystic fibrosis.

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