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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Surfactant Protein B Deficiency

Gene:    SFTPB 
Test:   Direct mutation analysis by gene sequencing
     
CPT Codes:
 

83891 x 1
83898 x 9
83904 x 18
83909 x 18
83912 x 1

Sensitivity:   SP-B deficiency accounts for approximately 20% of neonatal lung disease. Full sequence detects 99% of SP-B mutations.
Cost:   $1066
Turn Around Time:    Approximately 4 weeks
Special Considerations:   Clinical history on affected individual is requested; Pedigree required.  
     

 Click here for Sample Requirements

Click Here for Requisition and Billing forms

Click here for clinical information on Surfactant Protein B Deficiency.