Detection of a genetic cause of respiratory-related diseases provides you with results for the treatment of your patients. We support you with robust genetic diagnostics of inherited diseases that covers the majority of known associated genes. By establishing a comprehensive diagnosis through genetic testing, treatment options are accelerated.
Our pulmonary panel includes genes for the diagnosis of central hypoventilation, surfactant metabolism dysfunction, pulmonary hypertension among other pulmonary diseases.
|No. of genes:||101|
NGS including CNV analysis
Repeat expansion analysis: PHOX2B
COMMON SYNDROMES AND DISORDERS COVERED
- Central hypoventilation syndrome
- Comprehensive pulmonary disease
- Pulmonary hypertension
- Surfactant metabolism dysfunction