The clinical features of HPS are caused by the disruption of lysosome-related organelles in different tissue types. The incidence of HPS is approximately 1 in 500,000-1,000,000. HPS has an increased incidence, up to 1 in 1800, in Puerto Rico. Locus heterogeneity has been associated with HPS and nine causative genes (HPS1-HPS9) have been identified to date.
Pulmonary fibrosis is a condition in which the lung tissue becomes thickened and scarred over time making the lungs incapable of transporting oxygen into the bloodstream effectively. The most common signs and symptoms of idiopathic pulmonary fibrosis are shortness of breath and a persistent dry, hacking cough. Many affected individuals also experience a loss of appetite and gradual weight loss. It is reported that about 0.5-3.7% of idiopathic pulmonary fibrosis is familial.
- Wei & Li (2013). Pigm Cell Melanoma R. 26:176-192
- OMIM #203300: HPS.
- Confirmation of a clinical diagnosis of pulmonary fibrosis.
- Confirmation of a clinical diagnosis of Hermansky-Pudlak syndrome.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 60 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Pulmonary Disease Comprehensive Panel
- Pulmonary Arterial Hypertension Panel
- Cystic Lung Disease Panel
- Congenital Central Hypoventilation Syndrome Panel
- HPS1 Gene Sequencing
- HPS4 Gene Sequencing
- HPS4 Deletion/Duplication Panel
- Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Deletion/Duplication Panel