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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Non-Classic Cystic Fibrosis-Like Phenotype
(Recommended only for patients who have a negative CFTR sequence result) 

Gene:    SCNN1B
   
Test:   Direct analysis of the SCNN1B gene sequence; exons 2 through 13.
   
CPT Codes:
 		  83891 x 1
83898 x 12
83904 x 24
83909 x 24
83912 x 1
Sensitivity:   Sheridan et al identified SCNN1B mutations in 2 of 20 non-classic CF patients who were CFTR sequence negative.  Test sensitivity in the general population remains uncertain.   
  
Cost:   $1342 per individual
       
Turn Around Time:    4 to 5 weeks
Special Considerations:   Phenotypic information is extremely helpful.  

Full CFTR sequencing is recommended prior to SCNN1B testing. 
 
Reference   Sheridan et al (2005) Hum Molec Genet 14:3493

Link to Sample Requirements

Link to Requisition and Billing forms

Link to clinical information on Cystic Fibrosis and Non-Classic Cystic Fibrosis.

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