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Next Generation Sequencing

• Cystic Fibrosis carrier screening and diagnosis panel
• Mitochondrial Disorders
• Medical Exome
• Epilepsy Panel
• Comprehensive Neurology Panel
• Autism/Intellectual Disability Panel
• Ophthalmology Panel

Comparative Genomic Hybridization (CGH)

• Mental Retardation/ Developmental Delay
• Products of Conception (POC)
• Solid tumor and hematological cancers
• Prenatal diagnosis

Molecular Diagnostics

• • DNA mutation testing for single gene disorders.
  • • Spinal Muscular Atrophy, Fragile X Mental Retardation, Hemochromatosis, DMD and Myotonic Dystrophy (DM1)

Chromosome and FISH analysis on amniotic fluid, peripheral blood, products of conception, fibroblasts, bone marrow, lymph node and solid tumors