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.

Home
[Available Tests]
[Submission]
[Forms]
[Announcements]
[Links]
[Contact Us]  
 

Surfactant Deficiency caused by ABCA3 Mutations

Gene:    ABCA3 
Test:   Direct mutation analysis by gene sequencing of the coding regions of ABCA3
     
CPT Codes:
  Complete Sequence

83898 x 30
83904 x 42
83909 x 42
83912 x 1

Sensitivity:   ABCA3 mutations are expected in approximately 75% of infants with respiratory distress with low surfactant levels when surfactant protein B and C deficiencies have been excluded.

Full sequencing should detect 99% of mutations.

Cost:   $2332
Turn Around Time:    4 to 5 weeks
Special Considerations:   Clinical history on affected individual is requested.  
     

 Click here for Sample Requirements

Click Here for Requisition and Billing forms

Click here for clinical information on ABCA3 and Surfactant Deficiency