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Pulmonary alveolar proteinosis (PAP) is not a specific disease, but rather a syndrome characterized by the accumulation of surfactant in pulmonary alveoli that impairs respiratory gas exchange. This can lead to respiratory insufficiency, and in severe cases, respiratory failure. Primary PAP and other disorders of surfactant production (DSP) are caused by various, but identifiable, genetic mutations. The PAP Lab provides clinicians with the ability to identify causes of PAP in patients, leading to more precise and effective treatment.
Tests for Evaluating Patients with Disorders of Surfactant Homeostasis
Routine Clinical Tests for DSP *(NOT available at Cincinnati Children's)
SFTPB gene sequence analysis
Surfactant protein B deficiency
SFTPC gene sequence analysis
Surfactant protein C dysfunction
ABCA3 gene sequence analysis
Clinical Research Tests for PAP(available at Cincinnati Children’s)
Serum GM-CSF autoantibody level
Serum GM-CSF level
Congenital PAP due to GM-CSF receptor dysfunction
GM-CSF receptor signaling analysis
CSF2RA gene sequence analysis
GM-CSF receptor alpha dysfunction
CSF2RB gene sequence analysis
GM-CSF receptor beta dysfunction
Serum GM-CSF and SP-D levels
Monitoring disease severity in various PAP disorders
While some of these tests are routinecommercial tests, others are part of ongoing research and are available as clinical research tests. There is no charge for the clinical research tests, but patients and their caregivers will need to complete written informed consent forms before testing can take place.
To request testing or to make a referral, contact Bruce Trapnell, MD, Rare Lung Diseases Network Central Laboratory, 513-636-6361.
Learn more about our PAP testing capabilities and effect on patient care through this 2007 case study of a patient in the Rare Lung Diseases Program.
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