Cystic fibrosis mutation screening

Test code



3 mL amniotic fluid or 20mg chorionic villi or 3mL EDTA blood or 2 buccal swab


Sterile plastic conical tube or Sterile plastic conical tube with transport medium or Purple-top (EDTA) tube

Special instructions




Causes for rejection

Frozen specimen; hemolysis; clotted blood specimen; quantity not sufficient for analysis

Description of analysis

PCR analysis of Cystic Fibrosis Transmembrane Regulator (CFTR) gene locus designed to detect 4 common mutations (ΔF508, G551D, G542X & R553X) in the population which have been associated with Cystic Fibrosis

Test methodology

DNA is extracted from sample and subjected to polymerase chain reaction (PCR) amplification. The amplified product is directly sequenced using fluorescent dye-labeled terminator chemistry. Genetic variants are detected by comparison with wild-type CFTR gene sequence.


More than 1,000 CFTR mutations have been identified, but only a few of the mutations are common. This test is not designed to detect all of the mutations that cause CF. A negative result from the analysis cannot rule out possibility on unexamined mutations

Storage instruction

Specimen should be kept at room temperature


CF mutation and position of nucleotides are based on Cystic Fibrosis mutation database (


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