Achondroplasia mutation

Test code

GAP

Specimen

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

Container

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

Special instructions

Nil

Collection

Nil

Causes for rejection

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

Description of 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.

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 gene sequences

Limitation

This test will not detect any other mutations in the FGFR3 gene

Storage instruction

Specimen should be kept at room temperature

Reference

Horton WA, Hall JG and Hecht JT. Achondroplasia. Lancet. 2007 Jul 14; 370 (9582):162-72. Review

QUESTIONS?

+852 2147 4088