ASAH1 Gene Farber Disease Genetic Test
Test Name: ASAH1 Gene Farber disease Genetic Test
Components: Acid Ceramidase Enzyme
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 ASAH1 Gene Farber disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Farber disease.
Test Details
The ASAH1 gene is responsible for encoding an enzyme called acid ceramidase. Mutations in this gene can lead to a rare genetic disorder known as Farber disease or Farber lipogranulomatosis. Farber disease is an autosomal recessive disorder characterized by the accumulation of a fatty substance called ceramide in various tissues and organs of the body. This buildup of ceramide leads to the formation of granulomas, which are inflammatory nodules that can cause damage to affected tissues.
Next-generation sequencing (NGS) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or the entire genome. It is a powerful tool for identifying mutations in the ASAH1 gene and other genes associated with genetic disorders. NGS genetic testing for Farber disease involves obtaining a DNA sample from the individual being tested, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the ASAH1 gene.
The results of the NGS genetic test can help confirm a diagnosis of Farber disease and provide valuable information for genetic counseling and family planning. It can also aid in the development of personalized treatment plans for individuals with Farber disease. It is important to note that NGS genetic testing may not be available in all healthcare settings and should be performed by qualified geneticists or genetic counselors who specialize in the diagnosis and management of genetic disorders.
| Test Name | ASAH1 Gene Farber disease 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 ASAH1 Gene Farber disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Farber disease |
| Test Details |
The ASAH1 gene is responsible for encoding an enzyme called acid ceramidase. Mutations in this gene can lead to a rare genetic disorder known as Farber disease or Farber lipogranulomatosis. Farber disease is an autosomal recessive disorder characterized by the accumulation of a fatty substance called ceramide in various tissues and organs of the body. This buildup of ceramide leads to the formation of granulomas, which are inflammatory nodules that can cause damage to affected tissues. Next-generation sequencing (NGS) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or the entire genome. It is a powerful tool for identifying mutations in the ASAH1 gene and other genes associated with genetic disorders. NGS genetic testing for Farber disease involves obtaining a DNA sample from the individual being tested, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the ASAH1 gene. The results of the NGS genetic test can help confirm a diagnosis of Farber disease and provide valuable information for genetic counseling and family planning. It can also aid in the development of personalized treatment plans for individuals with Farber disease. It is important to note that NGS genetic testing may not be available in all healthcare settings and should be performed by qualified geneticists or genetic counselors who specialize in the diagnosis and management of genetic disorders. |
