Delta 508 Cystic Fibrosis Mutation


Sunquest Code:CF508  
Epic Code:LAB4335Epic Name:Cystic Fibrosis Delta 508
Order Instructions:Maternal Fetal Medicine only. All others order Cystic Fibrosis (CFTR) 165 Pathogenic Variants or Cystic Fibrosis Mutation Analysis
Methodology:RFLP analysis
CPT Code:81220
Test Includes:deltaF508 with reflex to CFTR specific site analysis if required.
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur before 1300; results are reported within 5-13 days.
Special Instructions:

Patients must be counseled regarding this test before and after results are obtained. Test should be ordered through Cystic Fibrosis Clinic, genetic counselor, or medical geneticist. 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; name and telephone number

 

A signed consent for 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.

 

Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Whole Blood
Optimal Volume:5 mL
Minimum\Peds Volume:3 mL adults, 2 mL infants and children
Container:Purple (EDTA) (Yellow (ACD, Solution A) tube available from laboratory)
Causes for Rejection:Frozen specimen


Processing and Shipping

Specimen Processing:Whole blood. Do not process. Store in refrigerator.
Shipping Instructions:Ship at room temperature to arrive within 48 hours of collection..
Test Performed at or Referral Lab Lab Sendouts  (Ambry Genetics)
Referral Lab number:1002


Interpretive

Reference Range:By report


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