Covering 569 genes, Hereditary Disease Solution (HDS) by Sophia Genetics includes genes and gene groups that are mostly associated with recessive diseases.
This kit, which is used in the diagnosis of neurological, metabolic, cardiological, nephrological, ophthalmological and musculoskeletal diseases, works with hybridization-based capture method.
Many inherited diseases have genetic heterogeneity and diagnosis of these diseases requires analysis of more than one gene. Working with large gene panels, especially in the presence of defined clinical features and family history of the disease, allows rapid results by simultaneously screening many genes associated with a disease. Targeted gene panels help obtain more specific data and facilitate data analysis compared to exome and genome sequencing. In hereditary diseases, next-generation sequencing panels can be applied for carrier screening as well as diagnosis and treatment.
Hereditary Disease Panel
Covering 569 genes, Hereditary Disease Solution (HDS) by Sophia Genetics includes genes and gene groups that are mostly associated with recessive diseases.
This kit, which is used in the diagnosis of neurological, metabolic, cardiological, nephrological, ophthalmological and musculoskeletal diseases, works with hybridization-based capture method.
Sophia Genetic Disease Panel can be used for many diseases such as;
- Spinocerebral Ataxia
- Limb-Girdle Muscular Dystrophy
- Joubert Syndrome
- Congenital Glycolization Disorders,
- Fabry Disease
- Wilson's Disease
- Mucopolysaccharidosis
- Familial Hypercholesterolemia
- Osteogenesis Imperfecta
- Retinitis Pigmentosa
- Usher Syndrome
- Hereditary Hearing Loss.
