Neuronal Ceroid Lipofuscinosis Gene Panel Test
Cost: AED 7200.0
Are you concerned about the possibility of having Neuronal Ceroid Lipofuscinosis (NCL) or carrying the gene mutation for this rare inherited disorder? Look no further than DNA Labs UAE for the Neuronal Ceroid Lipofuscinosis Gene Panel Test.
Test Details
The Neuronal Ceroid Lipofuscinosis (NCL) Gene Panel is a genetic test that analyzes a group of genes associated with NCL, a group of rare inherited disorders that affect the nervous system. NCL is characterized by the accumulation of lipopigments in the brain and other tissues, leading to progressive deterioration of vision, motor function, and cognitive abilities.
The NCL Gene Panel includes sequencing and deletion/duplication analysis of up to 14 genes associated with NCL, including CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, PPT1, TPP1, MFSD8, ATP13A2, CTSF, DNAJC5, and KCTD7. These genes play a role in the breakdown and removal of cellular waste, and mutations in these genes can disrupt this process, leading to the accumulation of lipopigments in cells.
The NCL Gene Panel can be used to:
- Confirm a clinical diagnosis of NCL
- Identify the specific subtype of NCL
- Provide information on the inheritance pattern and risk of passing the condition on to offspring
- Perform carrier testing in individuals with a family history of NCL
- Conduct prenatal diagnosis in families with a known NCL mutation
Overall, the NCL Gene Panel can provide important information for diagnosis, management, and genetic counseling for individuals and families affected by NCL.
Test Components
- Sterile container
- Sterile Normal Saline Container
- EDTA Vacutainer
Price
AED 7200.0
Sample Condition
Amniotic fluid, Chorionic villi, Peripheral blood
Report Delivery
4-6 weeks
Method
Next-Generation Sequencing (NGS)
Test Type
Genetics
Doctor
General Physician
Test Department
Genetics
Pre Test Information
The Neuronal Ceroid Lipofuscinosis Gene Panel Test can be done with a doctor’s prescription. Please note that a prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
If you suspect NCL or have a family history of NCL, it is important to consult with a healthcare professional and discuss the possibility of undergoing the Neuronal Ceroid Lipofuscinosis Gene Panel Test. Early detection and diagnosis can significantly impact the management and treatment of this disorder.
Test Name | Neuronal Ceroid Lipofuscinosis Gene Panel Test |
---|---|
Components | Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer |
Price | 7200.0 AED |
Sample Condition | Amniotic fluid\/ Chorionic villi\/ Peripheral blood |
Report Delivery | 4-6 weeks |
Method | NGS |
Test type | Genetics |
Doctor | General Physician |
Test Department: | |
Pre Test Information | Neuronal Ceroid Lipofuscinosis Gene Panel can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
The Neuronal Ceroid Lipofuscinosis (NCL) Gene Panel is a genetic test that analyzes a group of genes associated with NCL, a group of rare inherited disorders that affect the nervous system. NCL is characterized by the accumulation of lipopigments in the brain and other tissues, leading to progressive deterioration of vision, motor function, and cognitive abilities. The NCL Gene Panel includes sequencing and deletion/duplication analysis of up to 14 genes associated with NCL, including CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, PPT1, TPP1, MFSD8, ATP13A2, CTSF, DNAJC5, and KCTD7. These genes play a role in the breakdown and removal of cellular waste, and mutations in these genes can disrupt this process, leading to the accumulation of lipopigments in cells. The NCL Gene Panel can be used to confirm a clinical diagnosis of NCL, identify the specific subtype of NCL, and provide information on the inheritance pattern and risk of passing the condition on to offspring. It can also be used for carrier testing in individuals with a family history of NCL or for prenatal diagnosis in families with a known NCL mutation. Overall, the NCL Gene Panel can provide important information for diagnosis, management, and genetic counseling for individuals and families affected by NCL. |