Singe Gene Analysis

Indications for single gene testing
• High clinical suspicion for a specific gene to be causative for a patient’s clinical presentation
• Previous negative genetic testing did not include analysis of a specific gene of interest

Benefits of the single gene testing approach
• Single gene testing may be cost-effective and minimize the need for testing unnecessary genes that are not of interest.
• Single gene testing may reduce the chance of learning about health risks that are unrelated to the current clinical concern.

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Single gene testing test details
• Each single gene test is performed according to industry standards by methodologies including full sequencing analysis using a customized next-generation sequencing library and high resolution (exon-specific) deletion/duplication analysis using a customized oligonucleotide array.

Some of the common single diseases that we work on are the following:

  • Sickle Cell
  • Thalassemia
  • Duchenne Muscular Dystrophy
  • Spinal Muscular Dystrophy
  • Cystic Fibrosis
  • Fragile X Syndrome
  • Hereditary Breast Cancer
  • Hereditary Colon Cancer
  • Glycogen Storage Diseases
  • Mucopolysaccharidosis
  • Lipid Storage Diseases