POMT1 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2K NGS Genetic DNA Test
Introduction
The POMT1 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2K NGS Genetic DNA Test is a specialized genetic test designed to detect mutations in the POMT1 gene, which are associated with a specific type of limb-girdle muscular dystrophy (LGMD). This test employs Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive results, helping patients and healthcare providers make informed decisions regarding diagnosis and management.
What the Test Measures
This test primarily measures the presence of mutations in the POMT1 gene. These mutations can lead to a deficiency in the glycosylation of alpha-dystroglycan, resulting in the symptoms associated with limb-girdle muscular dystrophy. By identifying these mutations, the test helps in understanding the genetic basis of the condition.
Who Should Consider This Test
Individuals who should consider the POMT1 Gene test include:
- Patients with symptoms of limb-girdle muscular dystrophy, such as muscle weakness and wasting.
- Individuals with a family history of muscular dystrophy or related neurological disorders.
- Patients seeking genetic counseling for family planning purposes.
Benefits of Taking the Test
The benefits of undergoing the POMT1 Gene Limbgirdle Muscular Dystrophy test include:
- Accurate diagnosis of genetic conditions.
- Informed family planning and management options.
- Access to targeted therapies and interventions.
- Understanding the risk of passing on genetic conditions to future generations.
Understanding Your Results
Upon completion of the test, results will be analyzed and interpreted by a qualified geneticist. Generally, results may show:
- Presence of pathogenic variants indicating a diagnosis of LGMD.
- Variants of uncertain significance that may require further testing.
- Negative results, which may provide reassurance regarding the absence of known mutations.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| POMT1 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2K NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Branches and Booking
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. Our services also include home sample collection for your convenience. To book the POMT1 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2K NGS Genetic DNA Test, please call or WhatsApp us at +254713408028.
Take control of your health today by understanding your genetic risks. Book your test now!
