PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic DNA Test
Introduction
The PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic DNA Test is a pivotal diagnostic tool for identifying metabolic disorders associated with glycosylation. This test employs advanced Next Generation Sequencing (NGS) technology to analyze the PMM2 gene, which plays a crucial role in glycoprotein synthesis. Early detection of mutations in this gene can lead to timely interventions and better management of the condition.
What the Test Measures
This genetic test specifically detects mutations in the PMM2 gene that can lead to PMM2 Glycosylation Disorder Type 1A. By identifying these mutations, healthcare providers can understand the underlying genetic causes of the disorder and tailor treatment plans accordingly.
Who Should Consider This Test?
Individuals who experience symptoms of metabolic disorders or have a family history of glycosylation disorders should consider undergoing the PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic DNA Test. Symptoms may include developmental delays, neurological issues, and other metabolic irregularities.
Benefits of Taking the Test
- Early diagnosis of PMM2 Glycosylation Disorder Type 1A.
- Informed treatment decisions based on genetic insights.
- Access to genetic counseling for affected family members.
- Understanding potential risks for future generations.
Understanding Your Results
Results from the PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic DNA Test will provide insights into the presence of specific mutations. It is essential to discuss these results with a healthcare provider who can provide guidance on the implications and next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Branches & Booking
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu. Our team is ready to assist you with the PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic DNA Test. To book your test, please call or WhatsApp us at +254711564616.
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- 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 Glycosylation Disorder Type 1A.
- Specialty: General Physician
- Department: Genetics
- Method: NGS Technology
- Disease Type: Metabolic Disorders
