Pulmonary Test

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Something About

Pulmonary Panel

As discoveries in pulmonary genetic research continue to grow, we look forward to helping more families, while broadening the understanding of rare lung diseases.

Patients who meet one or more of the parameters below are viable candidates for a gene sequencing test:

  • Patients who are suspected of having a rare lung disease.
  • Patients with symptoms of lung disease at an unusually young age.
  • Family members of patients who have been diagnosed with a rare lung disease.
  • Patients who have an unusual mixture of symptoms often associated with lung disease, but don't fit one specific pattern of disease.

About

Comprehensive Pulmonology

Inherited pulmonary diseases are a group of lung disorders with variable clinical presentation and frequently have significant phenotypic overlap. The diseases can affect the airways (e.g, cystic fibrosis and primary ciliary dyskinesia), parenchyma (pulmonary fibrosis, Birt Hogg Dube syndrome and tuberous sclerosis) and vasculature of the lung, Rare lung diseases generally affect individuals from birth through about age 60. They are in many cases serious, chronic, and can be devastating Once properly diagnosed, they often require expensive, long-term treatments. The most common genetic respiratory disease is cystic fibrosis Misdiagnosis can lead to inappropriate care and an increased risk of complications Genetic diagnostics by NGS offers a rapid approach to correct clinical diagnosis and early and personalized intervention.

About

Common Symptoms of Lung Disease

  • Cough
  • Dyspnea
  • Orthopnea
  • Shortness of Breath
  • Stridor
  • Wheezing
  • Periodic Breathing
  • Hyperventilation
  • Tachypnea
  • Pleurisy
  • Cyanosis
  • Abnormal blood-gas level
  • Solitary pulmonary nodule
  • Other nonspecific abnormal finding of lung field
  • Abnormal results of pulmonary function studies
  • Hypoxemia
  • Mucus production
  • Asphyxia

Benefits of

Genetic testing?

  • A firm diagnosis can direct patients to appropriate experimental therapies or clinical trials.
  • Many genetic lung diseases have associated complications involving other organs that, if detected early, can be treated effectively.
  • Early diagnosis is important for preserving lung function. Once a diagnosis of any type of rare lung disease is confirmed, patients will be closely monitored for the development of complications, including lung infection, pneumothorax (collapsed lung), or end-stage lung disease. Earlier diagnosis, leading to earlier initiation of preventative therapies, can improve long-term lung health.
  • Having your relatives tested is important, even if they don’t show any signs of the disease. By discovering the same genetic mutation in a family member, we can offer treatment before their disease becomes more severe.

Diseases Tested in this Panel

  • Cystic Fibrosis
  • Central Hypoventilation Syndrome
  • Pulmonary arterial hypertension
  • Ret gene mutation can cause lung cancer
  • Chronic Obstructive Pulmonary disease
  • Bronchiectasis
  • Neuroendocrine Lung tumors
  • Asthma
  • Tuberous Sclerosis
  • Lymphangioleio-myomatosis Disease
  • Pulmonary Surfactant Dysfunction
  • Interstitial Lung Disease
  • Congenital Hypoventitalion Syndrome
  • Primary Ciliary
  • Dyskinesia Ciliary Dyskinesia
  • Pulmonary Hypertension
  • Kartagener Syndrome
  • Emphysema
  • Pneumothorax (Spontaneous Pneumothorax)
  • Pulmonary Fibrosis
  • Respiratory Distress Syndrome
  • Serpina1 Mutations can lead to AAT deficiency which is associated with substantially increased risk of lung disease

Labs Advantages:

  • Interfacing available via HL7 or API Reports
  • Portal available for real time results
  • Turnaround times are consistently fast
  • Quality data is our #1 priority
  • Patient first culture
  • Partner to physician
  • Access to experts in the lab at all times
  • Compliant & Accredited Laboratory

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