93200:CYSTIC FIBROSIS (CF) 32 MUTATION PANEL

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93200:CYSTIC FIBROSIS (CF) 32 MUTATION PANEL
Alias Names: CFTR / 5T
Methodology: Polymerase Chain Reaction (PCR) / Oligonucleotide Ligation / Fragment Analysis
Edit Date: 6/11/2010
Performed: Daily
Released: 3-7 days after setup at PeaceHealth Laboratories’ reference lab
CPT Code: 83891-908A / 83900-908A / 83901-908A x30 / 83909-908A / 83912-908A / 83914-908A x32
Specimen Collection Details
Collection: One 4 mL lavender top tube (EDTA). Also acceptable: One 6 mL pink top tube (K2EDTA), or one 6 mL or 8.5 mL yellow top tube (ACD Solution A or B). Refrigerate.
Handling: Keep as whole blood. Do not centrifuge. Send with patient history form, available from Client Services. It is critical to note on the form 1) if patient has CF symptoms, 2) ethnicity, and 3) family history of CF. Risk assessment is dependent on this information.
Stability: 72 hours ambient or 7 days refrigerated. Unstable frozen.
Standard Volume: 3 mL whole blood
Minimum Volume: 1 mL whole blood
Transport: Refrigerated.
Comments: Background information for Cystic Fibrosis, Nonclassic (CFTR) 32 Mutations and 5T:
Characteristics of Nonclassic Cystic Fibrosis (CF): Findings are often limited to a single organ system such as isolated pancreatitis, bilateral absence of the vas deferens, nasal polyposis, or bronchiectasis.
Incidence of Classis CF: 1:3,000 Caucasian or Ashkenazi Jewish births, 1:8000 Hispanics, 1:15,000 African Americans, and 1:32,000 Asians. Incidence of Nonclassic CF is unknown.
Inheritance: Autosomal recessive.
Mutations Tested: G85E, R117H, R334W, R347P, R347H, 394delTT, A455E, I507del, F508del, V520F, G542X, S549N, S549R, G551D, R533X, R560T, 621+1G>T, 711+1G>T, 1078delT, R1162X, W1282X, N1303K, 1717-1G>A, 1898+1G>A, 2183AA>G, 2184delA, 2789+5G>A, 3120+1G>A, 3659delC, 3849+10kbC>T, 3876delA, 3905insT.
The IVS-8/polyT variant is also analyzed.
Methods: PCR, oligonucleotide ligation assay (OLA), fluorescent hybridization probes, and capillary electrophoresis.
Limitations: Only the 32 mutations tested will be detected. Furthermore, mutations within the primer/probe regions could affect this assay.
Sensitivity: African American – 69%; Ashkenazi Jewish – 97%; Caucasian – 89%; Hispanic – 73%.
Analytical Sensitivity and Specificity: 99%.
Limitations: Rare diagnostic errors can occur due to primer or probe site mutations. Only the 32 CFTR mutations listed above, and the IVS-8 poly T site, will be interrogated. Note: IVS-8 is automatically analyzed and reported.
Rejection Criteria: Serum; frozen or clotted whole blood; hemolysis.
MEDICARE MAY REQUIRE A SIGNED ADVANCE BENEFICIARY NOTICE (ABN) FOR THIS TEST

This test may require insurance company prior authorization before ordering.
Please check the prior authorization list
.
Failure to gain preauthorization may result in denial of coverage.

PeaceHealth Laboratories