SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test
Introduction to the Test
The SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test is a vital diagnostic tool for identifying spinocerebellar ataxia, a hereditary neurological disorder. Spinocerebellar ataxia is characterized by progressive degeneration of the cerebellum and its afferent pathways, leading to difficulties in coordination and balance. This test is crucial for patients with a family history of ataxia or those exhibiting symptoms, allowing for accurate diagnosis and management.
What the Test Measures
This test specifically detects mutations in the ATXN7 gene, which are responsible for the SCA7 form of spinocerebellar ataxia. By analyzing the genetic material from a blood sample, the test can confirm the presence of these mutations, aiding in the diagnosis.
Who Should Consider This Test?
Individuals who should consider the SCA7 test include:
- Those with a family history of spinocerebellar ataxia.
- Patients experiencing symptoms such as:
- Loss of coordination
- Difficulty walking
- Speech difficulties
- Individuals with other risk factors for neurological disorders.
Benefits of Taking the Test
The benefits of the SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test include:
- Accurate diagnosis of genetic predispositions to neurological disorders.
- Facilitates early intervention and management strategies.
- Provides valuable information for family planning and genetic counseling.
Understanding Your Results
Results from the SCA7 test will indicate whether a mutation in the ATXN7 gene is present. If a mutation is detected, further discussions with a neurologist can help in understanding the implications and potential management options. It is essential to interpret these results in conjunction with clinical findings and family history.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test | 8,000 KSh | 15,000 KSh |
Sample Collection and Testing Process
The sample required for the SCA7 test is a minimum of 2 mL of whole blood collected in a lavender top (EDTA) tube. The sample should be shipped refrigerated and must not be frozen. Additionally, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for processing the test.
Branches and Home Sample Collection
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. We also offer a convenient home sample collection service for your ease.
Book Your Test Today!
Don’t wait for symptoms to worsen. Book the SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test today by calling or WhatsApping us at +254711564616. Early diagnosis can make a significant difference in management and quality of life.
