Diagnostic Testing Overview

Diagnostic Testing Overview

Prenatal

• Prenatal Testing-Amniotic Fluid
• Prenatal Testing-Chorionic Villi

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)

• Microarray CGH
• 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