POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 NGS Genetic DNA Test
Introduction
The POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes next-generation sequencing (NGS) technology to identify mutations in the POMGNT1 gene. This test is crucial for diagnosing congenital muscular dystrophies, particularly those associated with cognitive impairment and neurological disorders. Understanding these genetic factors can significantly impact patient management and treatment options.
What the Test Measures
This genetic test specifically measures alterations in the POMGNT1 gene, which is essential for proper muscle function and cognitive development. By detecting mutations, the test helps in confirming diagnoses of muscular dystrophy-dystroglycanopathy and related syndromes.
Who Should Consider This Test
Individuals exhibiting symptoms such as:
- Muscle weakness
- Difficulty with motor skills
- Cognitive delays or intellectual disabilities
- Family history of muscular dystrophy or related genetic disorders
Patients with risk factors or symptoms indicative of neurological disorders should consider this test for a comprehensive understanding of their genetic health.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions affecting muscle and cognitive function.
- Informed decision-making regarding treatment options and management strategies.
- Family planning insights through genetic counseling.
- Early intervention opportunities for affected individuals.
Understanding Your Results
Results from the POMGNT1 NGS Genetic DNA Test will provide insights into the presence of genetic mutations. A genetic counselor will assist in interpreting the results, explaining their implications for health management and family planning.
Test Details and Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website for more information. Don’t miss the opportunity to gain insights into your genetic health.
Turnaround time for results is approximately 3 to 4 weeks. Sample types accepted include blood or extracted DNA, or one drop of blood on an FTA card. It is recommended to have a genetic counseling session prior to testing to discuss family history and to draw a pedigree chart for affected family members.
