Achondroplasia / Hypochondroplasia

Please note: Informed consent from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.

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Skeletal Dysplasias - Achondroplasia / Hypochondroplasia
Gene:		FGFR3
Test:		Direct mutation analysis by sequencing of FGFR3 exons 10, 13 and 15
CPT Codes:		83891 x 1 83898 x 3 83904 x 6 83909 x 6 83912 x 1
Sensitivity:		This analysis detects 99% of mutations associated with Achondroplasia and >80% of mutations associated with Hypochondroplasia. This assay will also detect mutations associated with SADDAN.
Sensitivity:
Cost:		$542 per individual blood sample If prenatal testing or targeted testing for a known mutation is desired, please speak with a genetic counselor prior to shipping a specimen.
Turn Around Time:		3 to 4 weeks