WebGeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. WebDescription: Homo sapiens surfactant protein C (SFTPC), transcript variant 1, mRNA. (from RefSeq NM_003018) RefSeq Summary (NM_001385655): This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a …
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND Cystic fibrosis
WebIdiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream … WebCystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. terminal 1 las vegas
Hermansky-Pudlak Syndrome - GeneReviews®
WebIs a 114 gene panel that includes assessment of non-coding variants. In addition, it also includes the maternally inherited mitochondrial genome. Is ideal for clinically complex patients with pulmonary involvement. Analysis methods PLUS Availability 4 weeks Number of genes 114 Test code PU0701 Panel size Medium CPT code * WebRecommended Evaluations Following Initial Diagnosis of Cystic Fibrosis After the Newborn Period. An official website of the United States government. ... Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. ... Pulmonary: Pulmonary function testing ... WebSep 26, 2024 · Goodpasture syndrome refers to an anti-glomerular basement membrane (anti-GBM) disease that involves both the lungs and kidneys, often presenting as pulmonary hemorrhage and … road bike trails nj