Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis
Test code: BAMNL, BAMND, BAMNF
TAT: 14 days
This biochemical test measures alpha-mannosidase enzyme activity.
Ophthalmology
Alpha-mannosidosis: MAN2B1 Sequencing
Test code: DMAN
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with alpha-mannosidosis.
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.
Mitochondrial DNA Variant Panel
Test code: DMVP
TAT: 5 weeks
A panel of 96 mitochondrial DNA variants intended for patients with a diagnosis or clinical suspicion of a mitochondrial disorder.
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Variant
Test code: DMTP
TAT: 28 days
mtDNA Targeted Analysis with heteroplasmy is a next generation sequencing test used to detect a previously identified mtDNA varient.
mtDNA Targeted Analysis: Known Familial Variant
Test code: DMTS
TAT: 14 days
mtDNA Targeted Analysis is a Sanger sequencing test used to detect a previously identified mtDNA variant.
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.
Tay-Sachs Disease: HEXA Sequencing
Test code: DHXA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Tay-Sachs disease.
Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis
Test code: BTAYP
TAT: 14 days
This biochemical test measures beta-hexosaminidase enzyme activity.