Cystic Fibrosis (CF) Profile, 32 Mutations, Fetal 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.
Specimen: Amniotic fluid or chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing)
Volume: 10 mL amniotic fluid or 20 mg CVS (at least 5 mL amniotic fluid or 10 mg CVS)
Container: Sterile plastic conical tube or two confluent T25 flasks
Storage Instructions: Maintain specimen at room temperature.
Causes for Rejection: Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container
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