CHMP1A Gene Pontocerebellar Hypoplasia Type 8 NGS Genetic DNA Test
Introduction to the CHMP1A Gene Test
The CHMP1A Gene Pontocerebellar Hypoplasia Type 8 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the CHMP1A gene, which is associated with Pontocerebellar Hypoplasia Type 8, a rare neurological disorder. Understanding genetic factors is crucial for accurate diagnosis, treatment planning, and family counseling.
What the Test Measures
This test utilizes Next-Generation Sequencing (NGS) technology to detect specific mutations in the CHMP1A gene. By analyzing the genetic material, healthcare providers can determine if an individual has inherited mutations that may lead to neurological disorders.
Who Should Consider This Test?
Individuals who exhibit symptoms such as developmental delays, motor dysfunction, or other neurological issues should consider this test. Additionally, those with a family history of Pontocerebellar Hypoplasia or other related disorders may benefit from genetic testing.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions.
- Informed family planning and risk assessment.
- Guidance for treatment options based on genetic findings.
- Access to specialized care from neurologists and genetic counselors.
Understanding Your Results
Results from the CHMP1A Gene test will provide insight into the presence of mutations. A genetic counselor will help interpret the results and discuss potential implications for health and family planning.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| CHMP1A Gene Pontocerebellar Hypoplasia Type 8 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the CHMP1A Gene Pontocerebellar Hypoplasia Type 8 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling and any inquiries you may have.
Additional Information
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 by the CHMP1A Gene Pontocerebellar Hypoplasia Type 8.
Specialty: Neurology
Department: Genetics
Method: NGS Technology
Disease Type: Neurological Disorders
