CFTR Poly T Reflex Analysis to TG Repeat - LG6125

Sunquest Code:LSMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Synonyms:Cystic Fibrosis Poly T; Poly T/TG Repeat
Methodology:Genomic deoxyribonucleic acid (GDNA) is isolated from the patient's specimen using standardized methodology
Turnaround Time:Results are reported within 7-14 days
Special Instructions:Patient consent for genetic testing must be obtained prior to collection.
Associated Links:

Genetic Testing Consent Form

Collection Instructions

Specimen:Blood, cultured cells (CVS, amniocytes)
Optimal Volume:6 mL blood; CVS cultured cells: 2 t-25 cell flasks
Minimum\Peds Volume:3 mL
Container:Purple (EDTA) (T 25 Flasks with culture media, Yellow (ACD, Solution A) tube available from laboratory)
Patient Preparation:Wait at least two 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 blood. Store in refrigerator. See comments for Cell Culture specimens.
Shipping Instructions:Ship at room temperature or refrigerated. Cannot be received on a holiday..
Stability:Stability: Blood stable for 48 hours at room temperature or 7 days refrigerated temperature. Call performing lab before submitting cell culture flasks.
Test Performed at or Referral Lab Lab Sendouts  (Ambry Genetics)




·          Confirming diagnosis of CF in individuals with a known or suspected diagnosis based on symptoms. An early diagnosis directly impacts medical management and allows for implementation of treatment in a timely manner to optimize care for a patient.

·          Those at increased risk to be a carrier based on ethnicity specific, specific symptoms, family history, and/or partners of individuals that are CF carriers (for reproductive/prenatal genetic testing purposes).

·          Confirming a diagnosis in pregnancies identified to be at increased risk for CF (e.g. echogenic bowel or indicators).


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