Georgia Esoteric and Molecular Lab, LLC

 

Test Ordering Code: 1031

CPT Codes: 83891, 83900 + 83901 x13, 83914 x33, 83909, 83912

Turnaround Time:

5-7 business days

Specimen:

Whole blood anticoagulated with EDTA, 1mL minimum. Maintain specimen at 4° C after collection and ship at room temperature.

Clinical Significance:

Cystic Fibrosis (CF) is the most common autosomal recessive inherited disorder affecting children and young adults which is characterized by pulmonary disease, deficient exocrine pancreatic function, and complications due to the presence of abnormally thick mucus in many organs including the small intestine, liver, and reproductive tract.

Indications for Testing:

Carrier Screening

Diagnosis of Cystic Fibrosis

Methodology:

This test uses multiplex PCR to amplify 15 segments of the CFTR gene that contain the 33 mutation sites being analyzed. The presence or absence of the mutation is determined by an oligo ligation assay, where the ligation products are then analyzed by electrophoresis. Analyzed mutations include: ΔF508, ΔI507, V520F, 1717-1G > A, G542X, G551D, R553X, R560T, S549R, S549N, 3849+10kbC→ T, I148T, R117H, 711+1G→T, 1078ΔT, R347P, R347H, R334W, A455E, R1162X, 3659ΔC, W1282X, 3905insT, N1303K, G85E, 349ΔTT, 621+1G→T, 1898+1G→A, 2184ΔA, 2789+5G→A, 3120+1G→A, 3876ΔA, and F508C. Reflex testing for 5T/7T/9T is performed when R117H/C is detected and reflex testing is also carried out for I506V, I507V when either ΔI507 or ΔF508 mutation present.

Reference Interval:

 

References:

Preconception and Prenatal Carrier Screening for Cystic Fibrosis. Clinical and Laboratory Guidelines. The American College of Obstetricians and Gynecologists. Oct. 2001