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.

Providing PAP testing at Cincinnati Children’s 

Tests for Evaluating Patients with Disorders of Surfactant Homeostasis 

Clinical Research Tests for PAP
 (available at Cincinnati Children’s)

Disease Evaluated 

Serum GM-CSF autoantibody level

Autoimmune PAP

Serum GM-CSF level

Congenital PAP due to GM-CSF receptor dysfunction

GM-CSF receptor signaling analysis

Congenital PAP due to GM-CSF receptor dysfunction

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

NOTE: Routine clinical tests for DSP are NOT available at Cincinnati Children's.

While some of these tests are routine commercial 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.

Request Testing / Make a Referral

To request testing or to make a referral, contact Bruce Trapnell, MD, Rare Lung Diseases Network Central Laboratory, 513-636-6361.

PAP Testing Case Study

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.