HUNTINGTON DISEASE MUTATION DETECTION Test
Test Cost: AED 1600.0
Symptoms, Diagnosis, and Test Details
The Huntington disease mutation detection test is a genetic test used to identify the presence of a mutation in the huntingtin (HTT) gene, which is associated with Huntington’s disease. Huntington’s disease is a progressive neurodegenerative disorder that affects the brain and causes a range of physical, cognitive, and psychiatric symptoms.
The test typically involves analyzing a blood sample or a sample of DNA to look for an expansion of a repeated DNA sequence within the HTT gene. In individuals without Huntington’s disease, the number of repeated sequences is usually stable, while in affected individuals, there is an abnormal expansion of the repeated sequence.
The test can be used for diagnostic purposes in individuals showing symptoms of Huntington’s disease, as well as for presymptomatic testing in individuals who have a family history of the condition. It can also be used for prenatal testing to determine if a fetus has inherited the mutation from an affected parent.
The Huntington disease mutation detection test is an important tool for diagnosing and managing Huntington’s disease, as it allows for early detection and appropriate medical and psychological support for affected individuals and their families. It can also provide valuable information for family planning and genetic counseling purposes.
Test Components and Price
- Test Name: HUNTINGTON DISEASE MUTATION DETECTION Test
- Price: 1600.0 AED
- Sample Condition: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery
Sample due by Tuesday at 11 am; Report delivered within 10 working days.
Method
PCR Fragment analysis
Test Type
Disorders of Nervous System
Doctor
Neurologist
Test Department
MOLECULAR DIAGNOSTICS
Pre Test Information
Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
| Test Name | HUNTINGTON DISEASE MUTATION DETECTION Test |
|---|---|
| Components | |
| Price | 1600.0 AED |
| Sample Condition | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
| Report Delivery | SampleTue by 11 am; Report 10 Working days |
| Method | PCR Fragment analysis |
| Test type | Disorders of Nervous System |
| Doctor | Neurologist |
| Test Department: | MOLECULAR DIAGNOSTICS |
| Pre Test Information | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
| Test Details | The Huntington disease mutation detection test is a genetic test used to identify the presence of a mutation in the huntingtin (HTT) gene, which is associated with Huntington’s disease. Huntington’s disease is a progressive neurodegenerative disorder that affects the brain and causes a range of physical, cognitive, and psychiatric symptoms. The test typically involves analyzing a blood sample or a sample of DNA to look for an expansion of a repeated DNA sequence within the HTT gene. In individuals without Huntington’s disease, the number of repeated sequences is usually stable, while in affected individuals, there is an abnormal expansion of the repeated sequence. The test can be used for diagnostic purposes in individuals showing symptoms of Huntington’s disease, as well as for presymptomatic testing in individuals who have a family history of the condition. It can also be used for prenatal testing to determine if a fetus has inherited the mutation from an affected parent. The Huntington disease mutation detection test is an important tool for diagnosing and managing Huntington’s disease, as it allows for early detection and appropriate medical and psychological support for affected individuals and their families. It can also provide valuable information for family planning and genetic counseling purposes. |
