Ache Gene Acetycholinesterase Deficiency NGS Genetic DNA Test
Introduction
The Ache Gene Acetycholinesterase Deficiency NGS Genetic DNA Test is an advanced diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to identify genetic mutations associated with Acetycholinesterase deficiency. This condition can lead to various metabolic disorders, making early detection crucial for effective management and treatment.
What the Test Measures
This test measures the presence of mutations in the ACHE gene, which encodes the enzyme Acetycholinesterase. This enzyme is vital for the breakdown of acetylcholine, a neurotransmitter that plays a key role in muscle function and neurotransmission. Deficiencies can lead to serious health issues, including muscle weakness and metabolic disorders.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those with a family history of Acetycholinesterase deficiency.
- Patients exhibiting symptoms such as muscle weakness, fatigue, or unexplained neurological issues.
- Individuals considering family planning, particularly if there is a known genetic predisposition to metabolic disorders.
Benefits of Taking the Test
- Early detection of potential genetic disorders.
- Informed family planning and risk assessment.
- Guidance for healthcare providers in tailoring treatment approaches.
- Access to genetic counseling for better understanding and management of the condition.
Understanding Your Results
Results from the Ache Gene Acetycholinesterase Deficiency NGS Genetic DNA Test will indicate whether mutations are present. A genetic counselor will help interpret the results, providing guidance on next steps and potential implications for family members.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Ache Gene Acetycholinesterase Deficiency NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To schedule your Ache Gene Acetycholinesterase Deficiency NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you in your journey towards better health.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood
Pre-Test Instructions: Clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with Acetycholinesterase deficiency.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
