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 - SADDAN (Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans)
  

Gene:    FGFR3
   
Test:   Direct mutation analysis by sequencing of FGFR3, exon 15
  
CPT Codes:
  83891 x 1
83898 x 1
83904 x 2
83909 x 2
83912 x 1
Sensitivity:   Greater than 99%
    
Cost:   $302 per individual blood sample

If targeted testing for a known mutation or prenatal testing is desired, please speak with a genetic counselor prior to shipping a specimen.
  

Turn Around Time:    Approximately 3 weeks

 Click here for Sample Requirements

Click Here for Requisition and Billing forms

Click here for clinical information on SADDAN.