Rare Lung Diseases Program

  • The Pulmonary Alveolar Proteinosis (PAP) Lab

    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

    Routine Clinical Tests for DSP *
    (NOT available at Cincinnati Children's)

    Disease Evaluated

    SFTPB gene sequence analysis

    Surfactant protein B deficiency

    SFTPC gene sequence analysis

    Surfactant protein C dysfunction

    ABCA3 gene sequence analysis

    ABCA3 deficiency

    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

    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.

    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.