EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test
Introduction
The EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test is an advanced genetic diagnostic tool that assesses the EXOSC3 gene for mutations associated with Pontocerebellar Hypoplasia Type 1B, a neurological disorder characterized by underdevelopment of the brain’s cerebellum and pons. This test leverages Next-Generation Sequencing (NGS) technology to provide accurate and detailed insights into genetic conditions.
What the Test Measures
This test specifically detects mutations in the EXOSC3 gene, which can lead to various neurological complications. By identifying these mutations, healthcare providers can better understand the genetic basis of neurological disorders in affected individuals.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those with a family history of Pontocerebellar Hypoplasia or other neurological disorders.
- Patients exhibiting symptoms such as developmental delays, motor difficulties, or abnormal brain imaging results.
- Individuals seeking genetic counseling to understand their risks and options.
Benefits of Taking the Test
There are several advantages to undergoing the EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test:
- Accurate Diagnosis: Helps confirm or rule out genetic conditions.
- Informed Decision-Making: Provides essential information for treatment planning and management.
- Family Planning: Aids in understanding genetic risks for future pregnancies.
- Access to Support: Connects patients with resources and support networks.
Understanding Your Results
Results from the EXOSC3 Gene test will typically be available within 3 to 4 weeks after sample collection. A genetic counselor will help interpret the results, explaining any identified mutations and their implications for health and treatment options.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Collection and Preparation
For the test, a sample can be collected through:
- Blood sample
- Extracted DNA
- One drop of blood on an FTA card
It is recommended to have a clinical history prepared, including a genetic counseling session to draw a pedigree chart of family members affected by the disorder.
Branches Across Kenya
DNA Labs Kenya has branches in all major cities, including Nairobi, Mombasa, and Kisumu, offering convenient access to our testing services. We also provide home sample collection services for your convenience.
Book Your Test Today!
To book the EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Take the first step towards understanding your genetic health today!
