3 mL amniotic fluid or 20mg chorionic villi or 3mL EDTA blood or 2 buccal swabs
Sterile plastic conical tube or sterile plastic conical tube with transport medium or purple-top (EDTA) tube
Frozen specimen; hemolysis; clotted blood specimen; quantity not sufficient for analysis
DNA sequence analysis is designed to detect 2 major mutations G1138A (G->A) and G1138C (G->C) in fibroblast growth factor receptor 3 (FGFR3) gene.
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 gene sequences
This test will not detect any other mutations in the FGFR3 gene
Specimen should be kept at room temperature
Horton WA, Hall JG and Hecht JT. Achondroplasia. Lancet. 2007 Jul 14; 370 (9582):162-72. Review