Central Hypoventilation Syndrome: PHOX2B Polyalanine Repeat
Test code: DPHO
TAT: 7 days
A molecular test used to identify pathogenic variants in the gene associated with central hypoventilation syndrome.
Pulmonology
Central Hypoventilation Syndrome: PHOX2B Sequencing
Test code: DPHS
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with central hypoventilation syndrome.
Comprehensive Pulmonary NGS Panel
Test code: DCPP
TAT: 8 weeks
A panel of 147 genes intended for patients with a diagnosis or clinical suspicion of inherited pulmonary disorders.
Cystic Fibrosis: CFTR Sequencing
Test code: DCFS
TAT: 28 days
CFTR sequencing is a molecular test used to identify variants in the gene associated with cystic fibrosis.
Cystic Fibrosis: CFTR Targeted Analysis
Test code: DCTM
TAT: 28 days
Prenatal Samples Accepted
CFTR targeted analysis is a molecular test used to detect a known variant associated with cystic fibrosis.
Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel
Test code: DHPP
TAT: 8 weeks
A panel of 46 genes intended for patients with a diagnosis or clinical suspicion of inherited pulmonary disorder.
Ocular Albinism & Hermansky-Pudlak Syndrome NGS Panel
Test code: DOAH
TAT: 8 weeks
A panel of 18 genes intended for patients with a diagnosis or clinical suspicion of ocular albinism and Hermansky-Pudlak Syndrome and is performed by next generation sequencing.