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 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.  
     

 Link to Sample Requirements

Link to Requisition and Billing forms

Link to clinical information on ABCA3 and Surfactant Deficiency

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