Test Code: FGFR3M

Genes: FGFR3 (1 genes)

Sample Type: The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit.

Method: Targeted Genotyping by NGS

Turnaround Time: 10 Days

Courier: The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen.

Price: 500

Description:
DNA analysis for FGFR3 mutations to identify the G1138A (known as point mutation G380R) in patients with achondroplasia and the novel missense mutation (Lys650Met) in tyrosine kinase.