Institute of Genomic Medicine
Diagnostic Testing Overview
Prenatal
Cytogenetics
- Cytogenetic Testing Available
- Products of Conception Tissues from Aborted/Miscarried Fetuses
- Blood Chromosome Analysis
Cancer
- chromosome Analysis for solid tumors
- Non-Random Chromosomal Abnormalities in Hematological Malignancies
- Fluorescent in situ Hybridization (FISH) for Hematological Malignancies and Solid Tumors
- Cancer Hotspot Panel (50 genes)
Molecular
- Next Generation Sequencing
- Cystic Fibrosis carrier screening and diagnosis
- Mitochondrial Disorders: Leber Hereditary Optical Neuropathy (LHON) and Mitochondrial Encephalomyopathies (MELAS, MERRF and NARP)
- Medical Exome
- Epilepsy Panel
- Comprehensive Neurology Panel
- Autism / Intellectual Disability Panel
- Ophthalmology Panel
- Microarray Comparative Genomic Hybridization (CGH) (aka Chromosomal Microarray)
- Mental Retardation/ Developmental Delay
- Products of Conception (POC)
- Copy number detection of abnormalities in Solid tumor and hematological cancers
- Prenatal diagnosis
- Molecular Diagnostics
- DNA mutation testing for single gene disorders.
- DMD
- Myotonic Dystrophy (DM1)
- Fragile X Mental Retardation
- Hemochromatosis
- Spinal Muscular Atrophy
- Sickle Cell Anemia
- Sanger Sequencing
