|  RBHS

The Genomics Center

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Clinical Diagnostic Laboratory Tests

Description of services in CAP Accredited, CLIA certified laboratories:

Clinical Genomics Molecular Laboratory

Next Generation Sequencing
  • Cystic Fibrosis carrier screening and diagnosis
  • Ashkenazi Jewish screening panel
  • Mitochondrial Disorders
  • Cytochrome P450
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, etc.


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

Biochemical Genetics

  • Conformational analysis for newborn screening
  • Amino acid and organic acid disorders, mucopolysaccharidoses, defects of carnitine metabolism


James Dermody, Ph.D
Tel: 973-972-3170
Fax: 973-972-0795