Achondroplasia/Hypochondroplasia Mutation Analysis

Targeted mutation analysis is used to detect the c.1138G>A and c.1138G>C mutations in FGFR3, which cause the same amino acid substitution resulting in achondroplasia, and c.1620C>A and c.1620C>G, which cause the same amino acid substitution resulting in hypochondroplasia. This test does not rule out the possibility of other mutations in the FGFR3 gene. This laboratory performs targeted mutation analysis for these two mutations in FGFR3, which are associated with achondroplasia and hypochondroplasia.

Forms & Docs

Ordering

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Test Code
S0884

Turn Around Time
2-3 weeks

Billing

CPT Code
81401×1

Ordering Guidance

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
FGFR3, c.1138G

Methods
Sanger