Below tests are performed by sequencing of either a single exon for known mutation, or sequencing of entire coding region for confirmation of diagnosis.
Neuromuscular Disorders [Gene Symbol]
GNE - Mutations in GNE gene is known to cause Inclusion Body Myopathy, type 2, also known as Nonaka type myopathy, Hereditary Inclusion Body Myopathy (HIBM), Distal Myopathy with Rimmed Vacuoles (DMRV), Quadriceps Sparing Myopathy (QSM), or GNE related myopathy. See Spectrum of IBM2 Mutations reported.
CAPN3 - Associated with Limb Girdle Muscular Dystrophy, type 2A (LGMD2A).
FKRP - Associated with Limb Girdle Muscular Dystrophy, type 2I (LGMD2I).
Custom DNA Sequencing - We provided 4x forward and reverse clinical sequencing service.
Infectious Disease
T-Spot.TB® - T-cell based Interferon Gamma Release Assay (IGRA) performed by ELISPOT procedure. Compared to PPD or TB Skin Testing (TST), or other available IGRA based testing, T-Spot is more sensitive and specific for diagnosis of latent Tuberculosis. The test requires a distinct T-Spot.TB requisition form, blood must be delivered to the lab Mon-Thu by priority overnight.