COLQ Gene Endplate Acetylcholinesterase Deficiency NGS Genetic DNA Test
Introduction to the Test
The COLQ Gene Endplate Acetylcholinesterase Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool that plays a crucial role in identifying genetic disorders associated with neuromuscular transmission. This test is vital for patients experiencing symptoms related to muscle weakness, respiratory problems, or other neurological disorders. By utilizing Next Generation Sequencing (NGS) technology, this test provides comprehensive insights into the genetic factors affecting muscle function.
What the Test Measures
This test specifically detects mutations in the COLQ gene, which is essential for the proper functioning of the neuromuscular junction. Abnormalities in this gene can lead to conditions such as congenital myasthenic syndrome, characterized by muscle weakness and fatigue.
Who Should Consider This Test?
Individuals who exhibit symptoms such as:
- Muscle weakness
- Respiratory difficulties
- Fatigue after physical activity
- Family history of neuromuscular disorders
are encouraged to consider this test. A genetic counseling session is recommended prior to testing to create a pedigree chart of affected family members.
Benefits of Taking the Test
- Accurate diagnosis of genetic neuromuscular disorders.
- Guidance for treatment options and management strategies.
- Informed family planning and risk assessment for relatives.
- Utilization of advanced NGS technology for precise results.
Understanding Your Results
Results from the COLQ Gene Endplate Acetylcholinesterase Deficiency NGS Genetic DNA Test will be interpreted by a qualified neurologist. They will explain the significance of any detected mutations and discuss potential implications for treatment and management of associated symptoms.
Test Pricing
| Price Type | Price (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Branches and Booking
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. For your convenience, we also offer home sample collection services. Don’t wait—book your COLQ Gene Endplate Acetylcholinesterase Deficiency NGS Genetic DNA Test today by calling or WhatsApp messaging us at +254119023975!
