Lab Test : Cystic Fibrosis Gene Mutation Screening Panel

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Alternate:CF, CFDNA, CFTR
Includes:23 ACOG/ACMG recommended mutations plus polyT
Department:Molecular Genetics Lab
Phone:(937) 641-3262
SQ Code:CFMSP, CFMSPR (reflex to sequencing)
Available:Lap open M-F 7:30a-4:00p. Specimens accepted daily, 24 hrs. Specimens batched and test run weekly as needed.
Turnaround:10 days
Specimen:Blood
Volume:1 ml
Container:EDTA
Temperature:Room temperature for not more than 24 hrs. Can be stored at 4C for 1 wk.
Rejection:Will attempt to extract DNA and perform assay if hemolysis or clotting are present or if blood is in a preservative other than EDTA.
Normal:N/N genotype for each locus
Uses:To detect the 25 ACOG/ACMG recommended mutations and variants included in the panel.
Limitations:This assay detects ONLY the 25 recommended ACOG/ACMG recommeded CFTR mutations and variants included in the panel.
Method:FDA-Approved GenMark eSensor XT-8
 

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