Screening for hereditary diseases is "Basic"
On average, every person carries one or more pathogenic mutations in the genes responsible for the development of hereditary diseases.
Often, such mutations do not manifest themselves in clinical symptoms in the carriers themselves. However, when mutations coincide in both partners, the likelihood of passing the disease on to a child increases significantly, especially in the case of autosomal recessive inheritance. For the timely detection of such risks, basic screening for hereditary diseases is carried out.
Basic screening for hereditary diseases is a modern genetic analysis aimed at identifying the most common mutations. The analysis method is based on high-throughput sequencing of the new generation.
What analysis are included in the Basic screening?
The basic screening analyses 32 common pathogenic variants associated with 18 hereditary diseases.
Among the diseases tested are:
- cystic fibrosis,
- phenylketonuria,
- galactosemia,
- hearing loss,
- neuronal ceroid lipofuscinosis,
- Wilson's disease,
- leukoencephalopathy with brainstem involvement and increased lactate concentration,
- Smith-Lemli-Opitz syndrome,
- Tay-Sachs disease,
- mucopolysaccharidosis type I,
- multiple congenital anomalies syndrome,
- hypotonia and seizures type I,
- polycystic kidney disease with or without polycystic liver disease type 4,
- congenital glycosylation disorder type Ia,
- diastrophic dysplasia,
- Shimke's immunocostal dysplasia,
- Usher syndrome type 2a,
- congenital fructose intolerance.
Biomaterial: venous blood (2 ml) collected in a tube with EDTA.
No special preparation is required before taking the test.