POMK Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 12C NGS Genetic DNA Test
Introduction
The POMK Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 12C NGS Genetic DNA Test is a specialized diagnostic tool that plays a critical role in identifying genetic mutations associated with Limb-girdle muscular dystrophy (LGMD). This condition affects the muscles around the hips and shoulders, leading to progressive weakness and disability. Understanding the genetic basis of LGMD is essential for proper diagnosis, treatment planning, and family counseling.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect mutations in the POMK gene, which are responsible for the autosomal recessive type of Limb-girdle muscular dystrophy. By analyzing the DNA from a blood sample or extracted DNA, healthcare providers can identify specific genetic variants that may lead to this disorder.
Who Should Consider This Test
Individuals who should consider the POMK Gene test include:
- Those with a family history of Limb-girdle muscular dystrophy or other neuromuscular disorders.
- Patients exhibiting symptoms such as muscle weakness, difficulty in walking, or muscle wasting.
- Individuals seeking genetic counseling for family planning and understanding their risk of passing on genetic disorders.
Benefits of Taking the Test
Taking the POMK Gene Limbgirdle Muscular Dystrophy test offers several benefits:
- Accurate diagnosis of genetic conditions linked to LGMD.
- Informed decisions regarding treatment options and management strategies.
- Guidance for family planning and understanding the risk of inheritance.
- Access to support resources and counseling for affected individuals and families.
Understanding Your Results
Results from this test will indicate whether mutations in the POMK gene are present. It is important to discuss these results with a healthcare provider or genetic counselor, who can provide guidance on the implications of the findings and recommend further steps.
Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| POMK Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 12C NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait any longer to understand your genetic health. Book the POMK Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 12C NGS Genetic DNA Test today for a price of 400,000 NGN. For inquiries, please call or WhatsApp us at +2348077798758.
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 and a genetic counseling session to draw a pedigree chart of family members affected with POMK Gene Limb-girdle muscular dystrophy is required.
Consult with a neurologist or a geneticist for more information about this essential test.
