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Laboratory Medicine

Test catalogue

Cystic Fibrosis: CFTR Deletion/Duplication Analysis

Test Name

Cystic Fibrosis: CFTR Deletion/Duplication Analysis (Congenital Bilateral Absence of the Vas Deferens, CFTR-related hereditary pancreatitis, Bronchiectasis, Mucoviscidosis)

Lavender Tube Specimen Type / Requirements

Container Type = 2 Lavenders (EDTA)

Minimum Volume = 5- 10ml Whole Blood

0.5 mL EDTA (Neonate)

Tube must fill to at least ½ or greater of its vacuum capacity

Specimen Handling

Collection Instructions: Collect in Lavender (Purple EDTA) top. Write your initials, date and time of collection on the collection label or requisition.

Special Instructions The specimen should be shipped on a Monday, Tuesday or Wednesday so that the Laboratory will receive the specimen within 24-48 hours after collection. Ship at room temperature. If there is a delay in the shipping of specimen (i.e.>48 hours), the sample should be placed in the refrigerator and shipped to Laboratory on ice

Rejection Criteria: Serum, plasma, Unlabeled or Not Sufficient Quantity Samples will be rejected.

Stability: Stable at room temperature for 24 - 48hours, refrigerated for 7 Days.

Transportation: Send sample to core lab as soon as possible.

Required Documentation

Turnaround Time (TAT)

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Test Utilization

Reference Value

See Interpretative Report

Test code

MISCS

Method

Deletion/duplication analysis via MLPA

Testing Location

Referred Out – ON, Canada (ROSK01)

Other Information

Last Updated: June 06, 2019