Laboratory Test Directory

CYSTIC FIBROSIS MUTATION ASSAY: (138-0023 and 138-0026)

 Detection of CFTR gene mutations

 CFTR 32

 PCR, oligonucleotide ligation assay (OLA) and fragment analysis

 Molecular Diagnostics Laboratory

 6-12 days

Collect: Lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B) color top tubes or Digene cervical collection kit. 3ml of whole blood is required

Specimen Preparation: No processing

Storage/Transport: Ambient or refrigerated. Do not freeze

Stability:

Causes for Rejection: Incomplete and/or incorrect sample identification, or frozen

Patient history information is helpful to interpret test result. "Informed Consent for Genetic Testing" and "Patient History for Testing Cystic Fibrosis Gene (CFTR) 32 Mutations" forms are available. Submit forms with patient samples.

Forms:

• CF Patient History Form

• CF Consent Form

Negative (wild type) is normal, homozygous (affected) has two mutations, and heterozygous (carrier) has one mutation. These mutations are associated with cystic fibrosis, chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency and obstructive azoospermia.

Incidence: 1 in 3,000 Caucasians or Ashkenazi Jewish, 1 in 8,000 Hispanics, 1 in 15,000 African Americans, 1 in 32,000 Asians.

Inheritance: Autosomal recessive.

Penetrance: High for severe mutations, variable for mild mutations.

The test includes the American College of OB/GYN (ACOG) & American College of Medical Genetics (ACMG) recommended 23 mutation panel plus 9 additional mutations for a total of 32 mutations.

Mutations Tested:

The IVS-8/poly T (c.1210-12T[5_9] is analyzed and reported. The mutations tested are listed above according to the legacy nomenclature; the standard nomenclature is listed in parentheses. Panel mutations are reported according to the legacy nomenclature.

Clinical Sensitivity: Ashkenazi Jewish 94 percent; Caucasian 89 percent; Hispanic 73 percent; African American 65 percent; Asian American 55 percent.

 81220 and 81224

When ordering tests for which Medicare or Medicaid reimbursement will be sought, physicians should only order tests that are medically necessary for the diagnosis or treatment of the patient.  Components of the organ or disease panels may be ordered individually.  The diagnostic information must substantiate all tests ordered and must be in the form of an ICD-9 code or its verbal equivalent.

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