PPT1 Gene Ceroid lipofuscinosis neuronal type 1 Genetic Test
Test Details
Ceroid lipofuscinosis neuronal type 1 (CLN1) is a rare genetic disorder characterized by the accumulation of a substance called lipofuscin in the cells of the brain and other tissues. It is caused by mutations in the PPT1 gene.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or even the entire genome. In the context of CLN1, NGS genetic testing can be used to identify mutations in the PPT1 gene that are responsible for the disease.
The NGS genetic test for CLN1 involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual suspected of having the disorder. The DNA is then sequenced using NGS technology to identify any mutations or variations in the PPT1 gene.
The results of the NGS genetic test can provide valuable information about the specific genetic mutations present in the individual’s PPT1 gene. This information can be used for diagnostic purposes, to confirm a suspected diagnosis of CLN1, as well as for genetic counseling and family planning.
It is important to note that NGS genetic testing for CLN1 is typically performed in specialized laboratories that have expertise in genetic testing and interpretation. The results should be interpreted by a healthcare professional familiar with the genetic basis of CLN1 and its associated clinical features.
Test Name: PPT1 Gene Ceroid lipofuscinosis neuronal type 1 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 PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Ceroid lipofuscinosis neuronal type 1
| Test Name | PPT1 Gene Ceroid lipofuscinosis neuronal type 1 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 PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Ceroid lipofuscinosis neuronal type 1 |
| Test Details |
Ceroid lipofuscinosis neuronal type 1 (CLN1) is a rare genetic disorder characterized by the accumulation of a substance called lipofuscin in the cells of the brain and other tissues. It is caused by mutations in the PPT1 gene. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or even the entire genome. In the context of CLN1, NGS genetic testing can be used to identify mutations in the PPT1 gene that are responsible for the disease. The NGS genetic test for CLN1 involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual suspected of having the disorder. The DNA is then sequenced using NGS technology to identify any mutations or variations in the PPT1 gene. The results of the NGS genetic test can provide valuable information about the specific genetic mutations present in the individual’s PPT1 gene. This information can be used for diagnostic purposes, to confirm a suspected diagnosis of CLN1, as well as for genetic counseling and family planning. It is important to note that NGS genetic testing for CLN1 is typically performed in specialized laboratories that have expertise in genetic testing and interpretation. The results should be interpreted by a healthcare professional familiar with the genetic basis of CLN1 and its associated clinical features. |
