CTSD Gene Ceroid lipofuscinosis neuronal type 10 Genetic Test
Components: CTSD Gene Ceroid lipofuscinosis neuronal type 10 Genetic Test
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 CTSD Gene Ceroid lipofuscinosis neuronal type 10 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Ceroid lipofuscinosis neuronal type 10.
Test Details: CTSD gene ceroid lipofuscinosis neuronal type 10 (CLN10) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the CTSD gene, which provides instructions for producing an enzyme called cathepsin D. This enzyme is involved in the breakdown and recycling of cellular waste products. Individuals with CLN10 typically experience progressive neurological symptoms, including seizures, movement disorders, cognitive decline, and vision loss. The age of onset and severity of symptoms can vary widely.
NGS genetic testing can be used to identify mutations in the CTSD gene and confirm a diagnosis of CLN10. NGS, or next-generation sequencing, is a high-throughput DNA sequencing technology that can rapidly analyze multiple genes simultaneously. This allows for a more comprehensive and efficient genetic analysis compared to traditional sequencing methods.
Genetic testing for CLN10 can help to confirm a diagnosis, provide information about the specific genetic mutation involved, and offer guidance for managing the condition. It can also be useful for identifying carriers of the mutation in at-risk family members and for prenatal testing in families with a known mutation. It is important to note that genetic testing for CLN10 should be performed by a qualified healthcare professional or genetic counselor, who can provide appropriate counseling and interpretation of the results.
Test Name | CTSD Gene Ceroid lipofuscinosis neuronal type 10 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 CTSD Gene Ceroid lipofuscinosis neuronal type 10 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Ceroid lipofuscinosis neuronal type 10 |
Test Details |
CTSD gene ceroid lipofuscinosis neuronal type 10 (CLN10) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the CTSD gene, which provides instructions for producing an enzyme called cathepsin D. This enzyme is involved in the breakdown and recycling of cellular waste products. Individuals with CLN10 typically experience progressive neurological symptoms, including seizures, movement disorders, cognitive decline, and vision loss. The age of onset and severity of symptoms can vary widely. NGS genetic testing can be used to identify mutations in the CTSD gene and confirm a diagnosis of CLN10. NGS, or next-generation sequencing, is a high-throughput DNA sequencing technology that can rapidly analyze multiple genes simultaneously. This allows for a more comprehensive and efficient genetic analysis compared to traditional sequencing methods. Genetic testing for CLN10 can help to confirm a diagnosis, provide information about the specific genetic mutation involved, and offer guidance for managing the condition. It can also be useful for identifying carriers of the mutation in at-risk family members and for prenatal testing in families with a known mutation. It is important to note that genetic testing for CLN10 should be performed by a qualified healthcare professional or genetic counselor, who can provide appropriate counseling and interpretation of the results. |