SGSH Gene Mucopolysaccharidosis type 3A Genetic Test
Test Name: SGSH Gene Mucopolysaccharidosis type 3A Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test type: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Mucopolysaccharidosis type 3A.
Test Details
The SGSH gene is responsible for producing an enzyme called N-sulfoglucosamine sulfohydrolase, which is involved in breaking down complex sugars called glycosaminoglycans (GAGs) in the body. Mutations in the SGSH gene can lead to a deficiency in this enzyme, causing a condition known as mucopolysaccharidosis type 3A (MPS 3A), also called Sanfilippo syndrome type A.
Mucopolysaccharidosis type 3A is an autosomal recessive disorder, meaning that an individual must inherit two mutated copies of the SGSH gene (one from each parent) to develop the condition. This genetic disorder primarily affects the central nervous system and leads to the accumulation of GAGs in various tissues and organs, causing progressive neurodegeneration.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify mutations or variants that may be associated with a particular genetic disorder. In the case of mucopolysaccharidosis type 3A, NGS genetic testing can be used to detect mutations in the SGSH gene, helping to confirm a diagnosis of the condition.
NGS testing involves sequencing the DNA of an individual and comparing it to a reference genome to identify any variations or mutations. This type of testing can provide a comprehensive analysis of multiple genes, making it a powerful tool for diagnosing genetic disorders like mucopolysaccharidosis type 3A.
It is important to note that genetic testing for mucopolysaccharidosis type 3A should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and guidance.
| Test Name | SGSH Gene Mucopolysaccharidosis type 3A Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mucopolysaccharidosis type 3A |
| Test Details |
The SGSH gene is responsible for producing an enzyme called N-sulfoglucosamine sulfohydrolase, which is involved in breaking down complex sugars called glycosaminoglycans (GAGs) in the body. Mutations in the SGSH gene can lead to a deficiency in this enzyme, causing a condition known as mucopolysaccharidosis type 3A (MPS 3A), also called Sanfilippo syndrome type A. Mucopolysaccharidosis type 3A is an autosomal recessive disorder, meaning that an individual must inherit two mutated copies of the SGSH gene (one from each parent) to develop the condition. This genetic disorder primarily affects the central nervous system and leads to the accumulation of GAGs in various tissues and organs, causing progressive neurodegeneration. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify mutations or variants that may be associated with a particular genetic disorder. In the case of mucopolysaccharidosis type 3A, NGS genetic testing can be used to detect mutations in the SGSH gene, helping to confirm a diagnosis of the condition. NGS testing involves sequencing the DNA of an individual and comparing it to a reference genome to identify any variations or mutations. This type of testing can provide a comprehensive analysis of multiple genes, making it a powerful tool for diagnosing genetic disorders like mucopolysaccharidosis type 3A. It is important to note that genetic testing for mucopolysaccharidosis type 3A should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and guidance. |
