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.
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
