Test Code: FGFR3M

Achondroplasia (FGFR3) - 2 mutations c.1138G>A/C

Monogenic disorder

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.

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.

Turnaround Time

10 Days days

Courier Requirements

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.

Pricing

Genes Analyzed

1 genes

FGFR3

Methodology

Targeted Genotyping by NGS

Test Code FGFR3M
Category Monogenic disorder
Sample 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.
TAT 10 Days 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.
Genes 1 genes analyzed

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