Cystic Fibrosis (CF) Profile, 32 Mutations, DNA Analysis

Cystic Fibrosis (CF) Profile, 32 Mutations, DNA Analysis

Gene/Alternative Name

The CF transmembrane conductance regulator (CFTR) chloride channel gene

Methodology

Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis

Test Description

Detection of 32 CF mutations: G85E; ΔI507; R553X; 711+1G>T; 3659delC; R117H; ΔF508; R560T; 1078delT; 3849+10kbC>T; V520F; R1162X; 1717-1G>A; 3876delA; R334W; G542X; W1282X; 1898+1G>A; 3905insT; R347P; S549N; N1303K; 2183AA>G; 2184delA; R347P; S549R T>G; 394delTT; 2789+5G>A; A455E; G551D; 621+1G>T; 3120+1G>A

Clinical Significance

Help determine affected or carrier status for the 32 most common CF mutations

Limitations

This assay detects as many as 90% of cystic fibrosis carriers in the Caucasian population. Within other ethnic groups, there may be higher or lower detection efficiency. Includes the mutation profile currently recommended by the ACMG and the ACOG.

Specimen Requirements

Whole blood tube should be sent to the lab unopened. It is preferable not to perform additional testing on original tubes prior to PCR testing. A completed screening questionnaire must accompany specimens.

Specimen: Whole blood or buccal swab kit

Volume: 4 mL whole blood or Celltechgen buccal swab kit

Container: Lavender-top (EDTA) tube, yellow-top (ACD) tube, or Celltechgen buccal swab kit

Storage Instructions: Maintain specimen at room temperature.

Causes for Rejection: Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab

Storage & Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Overnight shipment is recommended.

CPT Code(s)*

81220

Turnaround Time

8 – 10 days