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 the reference laboratory Mon-Sat; results are reported within 5-14 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.
Compliance:

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes. Counseling and informed consent are recommended for genetic testing.

Associated Links:

Genetic Testing Consent Form



Collection Instructions

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


Processing and Shipping

Specimen Processing:Do not process. Store in refrigerator.
Shipping Instructions:Ship at refrigerated temperature.
Stability:72 hours at room temperature; 1 week refrigerated; 1 month frozen.
Test Performed at or Referral Lab Lab Sendouts  (ARUP)
Referral Lab number:2013661


Interpretive

Reference Range:

By report.

 

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


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