GJB1 Gene CMTX1 NGS Genetic DNA Test
The GJB1 Gene CMTX1 NGS Genetic DNA Test is a specialized genetic test that plays a crucial role in diagnosing X-linked Charcot-Marie-Tooth disease (CMTX1), a hereditary neurological disorder. This test utilizes Next-Generation Sequencing (NGS) technology to analyze the GJB1 gene, which is responsible for the production of a protein essential for the normal functioning of peripheral nerves. Understanding the genetic basis of this condition is vital for effective management and treatment.
What the Test Measures
This test detects mutations in the GJB1 gene that can lead to CMTX1. By identifying these genetic changes, healthcare providers can better understand the underlying cause of neurological symptoms in patients.
Who Should Consider This Test?
Individuals experiencing symptoms such as:
- Muscle weakness
- Numbness or tingling in the extremities
- Difficulty walking or maintaining balance
- Family history of Charcot-Marie-Tooth disease
Those with risk factors for neurological disorders should also consider this test for early diagnosis and intervention.
Benefits of Taking the Test
- Provides a definitive diagnosis for patients with unexplained neurological symptoms.
- Aids in family planning by identifying carriers of the GJB1 mutation.
- Guides treatment decisions and management strategies for affected individuals.
- Offers peace of mind for patients and families regarding hereditary risks.
Understanding Your Results
Results from the GJB1 Gene CMTX1 NGS Genetic DNA Test will be interpreted by a qualified healthcare professional. Positive results indicate the presence of a mutation, while negative results suggest no detectable mutation in the GJB1 gene. It is essential to discuss results with a genetic counselor or neurologist to understand the implications for health and family.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
GJB1 Gene CMTX1 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Locations and Booking
We have branches across all major cities in Kenya and offer a home sample collection service for your convenience. To book the GJB1 Gene CMTX1 NGS Genetic DNA Test or for more information, please call or WhatsApp us at +254746849631.
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