CFTR Deletion/Duplication Analysis

Abbrev Code:XMISC   
Order Code:LAB4909Order Name:Laboratory Miscellaneous Order
Synonyms:Cystic Fibrosis Deletion/Duplication
Methodology:Gene deletion/duplication analysis is performed using Multiplex Ligation-dependent Probe Amplification
CPT Codes: 81222 x1
Test Includes:Gene copy number for any of the 27 exons on the CFTR gene.
Turnaround Time:Results are reported within 5-13 days,
Special Instructions:Patient consent for genetic testing must be obtained prior to collection.
Associated Links:

Genetic Testing Consent Form

Collection Instructions

Specimen:Whole blood
Optimal Volume:6 mL
Minimum\Peds Volume:3 mL (adult); 2 mL (pediatric)
Container:Purple (EDTA)
Alternate Containers: Yellow (ACD, Solution A) tube available from laboratory
Patient Preparation:Wait at least 2 weeks after a packed cell/platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to blood draw for testing.

Processing and Shipping

Specimen Processing:Do not process. Store in refrigerator.
Shipping Instructions:Ship at room temperature or refrigerated. Cannot be received on a holiday.
Stability:Stability: Stable for 48 hours at room temperature, or 7 days at refrigerated temperature.
Test Performed at or Referral Lab Lab Sendouts  (Ambry Genetics)
Referral Lab number:1004


Use:Confirming a diagnosis in patients known or suspected to have CF.

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