Achondroplasia / Thanatophoric Dysplasia

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 /Thanatophoric Dysplasia
Gene:		FGFR3
Test:		Direct mutation analysis by sequencing of FGFR3 exons 7, 10, 15, 19
CPT Codes:		83891 x 1 83898 x 4 83904 x 8 83909 x 8 83912 x 1
Sensitivity:		This analysis detects 99% of mutations associated with Achondroplasia, >90% of mutations associated with Type I Thanatophoric Dysplasia and 99% of mutations associated with Type II Thanatophoric Dysplasia.
Cost:		$662 per individual blood sample Please speak with the genetic counselor for information, price and CPT codes for prenatal testing.
Turn Around Time:		3 to 4 weeks