Indications for single gene testing
β’ High clinical suspicion for a specific gene to be causative for a patientβs clinical presentation
β’ Previous negative genetic testing did not include analysis of a specific gene of interest
Benefits of the single gene testing approach
β’ Single gene testing may be cost-effective and minimize the need for testing unnecessary genes that are not of interest.
β’ 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
β’ 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
