Johns Hopkins DNA Diagnostic Laboratory

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

Back to Services page

Link to Sample Requirements

Link to Requisition and Billing forms

Link to clinical information on Achondroplasia.

Link to clinical information on Thanatophoric Dysplasia.

Link to Patient and Family Page for general resources on genetic testing.