Genzyme performs poly(T) analysis reflexively for those individuals identified as R117H-positive since poly(T) modifies the clinical effects of R11 7H. This is consistent with the ACOG/ACMG recommendations and their goal of offering screening to identify couples at risk for having a child with CF. Additionally, poly(T) testing is ordered in certain diagnostic situations (e.g., congenital bilateral absence of the vas deferens (CBAVD) and idiopathic pancreatitis).
CPT Codes:
83891(1), 83893(3), 83894(1), 83896(3), 83898(1), 83912(1)
Specimen Requirements:
Please Note: Call a laboratory genetic coordinator prior to obtaining any specimens. This test will be performed and billed by reflex if CF mutation analysis shows the R117H mutation.
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Blood:
- 20 ml whole blood in ACD-A (yellow-top) or EDTA (lavender-top) tube.
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Dried Blood Spot :
- Dried blood spots collected on Genzyme provided filter paper/test requisition.
- Fill a minimum of three circles completely with blood. Please Note: If prenatal carrier screening for cystic fibrosis is ordered in conjunction with first trimester screening all six circles should be filled.
Turnaround Time:
5-8 days
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Mouthwash:
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Please Note: Patient should not eat, drink, smoke or chew gum for at least one hour prior to collection (see specimen kit for detailed instructions).
- 10 ml of Scope® mouthwash that has been swished vigorously for at least one minute.
- Collect in orange-top 50 ml polypropylene tube.
Turnaround Time:
7-10 days
Client Services:
Reproductive/Genetics
800-848-4436
Specimen Services/Pickup:
877-246-1226
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