SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test
Introduction
The SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test is a crucial diagnostic tool for identifying genetic mutations associated with Spinocerebellar Ataxia type 1 (SCA1). This test plays a significant role in understanding the genetic basis of ataxia, a neurological disorder characterized by impaired coordination and balance.
What the Test Measures
This test specifically detects mutations in the ATXN1 gene, which are known to cause SCA1. By analyzing the genetic material, healthcare providers can determine if an individual carries the mutation that predisposes them to this disorder.
Who Should Consider This Test?
Individuals who have a family history of ataxia or exhibit symptoms such as:
- Unexplained balance issues
- Coordination problems
- Difficulty in walking
- Slurred speech
should consider this test. Additionally, those with risk factors such as a known family history of SCA1 should also seek testing.
Benefits of Taking the Test
- Early diagnosis allows for better management of symptoms.
- Informs family planning and genetic counseling.
- Helps in understanding the risk of developing the disorder.
- Enables informed decisions regarding lifestyle and treatment options.
Understanding Your Results
Results from the SCA1 test can guide patients and their families in understanding their genetic risks. A positive result indicates the presence of the ATXN1 mutation, while a negative result suggests that the individual does not carry the mutation. It is essential to discuss results with a healthcare provider for proper interpretation and guidance.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test | 58,500 NGN | 65,000 NGN |
Book Your Test Today!
To book the SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test, please call or WhatsApp us at +2348077798758. Don’t wait to take charge of your health!
Turnaround Time: 10-12 days
Sample Type: 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.
Test Components: ATXN1 Gene
Pre-Test Instructions: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Specialty: Neurologist
Department: Molecular Diagnostics
Method: PCR, Fragment Analysis
Disease Type: Neurologic Disorder – Ataxia
