CHRND Gene Myasthenic Syndrome Congenital Type 3C Associated With Acetylcholine Receptor Deficiency NGS Genetic DNA Test
The CHRND Gene Myasthenic Syndrome Congenital Type 3C test is an advanced diagnostic procedure that utilizes Next Generation Sequencing (NGS) technology to identify genetic mutations associated with acetylcholine receptor deficiency. This test plays a vital role in diagnosing congenital myasthenic syndromes, which can lead to significant muscle weakness and fatigue, affecting a patient’s quality of life.
What the Test Measures
This genetic test specifically detects mutations in the CHRND gene, which are responsible for congenital myasthenic syndrome type 3C. By analyzing the DNA, healthcare providers can determine whether a patient has a genetic predisposition to this condition.
Who Should Consider This Test
Individuals who experience symptoms such as muscle weakness, fatigue, and respiratory difficulties should consider this test. Additionally, those with a family history of congenital myasthenic syndromes or acetylcholine receptor deficiencies may benefit from genetic testing.
Benefits of Taking the Test
- Accurate diagnosis of congenital myasthenic syndrome.
- Informed decision-making regarding treatment options.
- Understanding genetic risks for family members.
- Access to specialized care from neurologists and geneticists.
Understanding Your Results
Once the test is completed, results will be provided to the healthcare provider, who will interpret them in the context of clinical symptoms and family history. This guidance is essential for creating an effective management plan for the patient.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| CHRND Gene Myasthenic Syndrome Congenital Type 3C NGS Test | 400,000 | 560,000 |
Book Your Test
To schedule your CHRND Gene Myasthenic Syndrome Congenital Type 3C test, please contact us at +2348077798758. Our team is ready to assist you with any questions and guide you through the booking process.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One Drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with the CHRND Gene Myasthenic syndrome.
Consult with a neurologist or geneticist to determine if this test is appropriate for you or your loved ones. Early diagnosis can lead to better management and improved outcomes for those affected by this condition.
