DNA Diagnostic Laboratory at Johns Hopkins  

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Guide to test panels for Disorders of Surfactant Deficiency or Dysfunction

Panel Tests Included Test Protocol Codes and Fees
Neonatal Respiratory Distress / Pulmonary Alveolar Proteinosis SFTPB sequence plus MLPA for deletions/duplications
ABCA3 sequence plus MLPA for deletions/duplications
SFTPC sequence
NKX2-1 sequence plus MLPA for deletions/duplications
All tests performed simultaneously for more rapid turn around time

Referrer receives individual test results as completed plus a summary report

 81479; $1066
 81479; $2332
81479; $429
81479; $772
81479; $882
81479; $429
billed individually

Total:  $5920*

Childhood Interstitial Lung Disease ABCA3 sequence plus MLPA for deletions/duplications
SFTPC sequence
NKX2-1 sequence plus MLPA for deletions/duplications
Sequencing; reflexed to MLPA if needed

Referrer receives individual test results as completed plus a  summary report

 
 81479; $2332
81479; $429
81479; $772
81479; $882
81479; $429
billed individually

Total:  $4854*
(if all tests are needed)

Other Test Suggestions      
Idiopathic Pulmonary Fibrosis SFTPC sequence and
TERT and TERC (TR) sequence
As ordered by referrer Per test ordered (see individual test pages)

 * Tests ordered individually are resulted and billed according to details on the individual test pages
     (click links for each gene in table above).

 

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