Cystic Fibrosis (CF) Profile, 32 Mutations, DNA Analysis
The CF transmembrane conductance regulator (CFTR) chloride channel gene
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis
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
Help determine affected or carrier status for the 32 most common CF mutations
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.
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.
8 – 10 days