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POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N Genetic Test

4,400 د.إ

-21%

The POMT1 gene plays a crucial role in the development and maintenance of muscle tissue. Mutations in this gene can lead to a specific form of limb-girdle muscular dystrophy, classified as autosomal recessive type 2N (LGMDR2, formerly LGMD2N). This condition is characterized by progressive weakness and wasting of the limb-girdle muscles, which are the muscles around the shoulders and hips. Symptoms typically begin in childhood or adolescence and can vary widely in severity.

To diagnose this condition and differentiate it from other forms of muscular dystrophy, genetic testing is essential. DNA Labs UAE offers a specialized test targeting the POMT1 gene to identify mutations associated with LGMDR2. The test involves analyzing the patient’s DNA, extracted from a blood sample, to look for specific genetic alterations in the POMT1 gene that are known to cause the disease.

The cost of the POMT1 gene limb-girdle muscular dystrophy autosomal recessive type 2N genetic test at DNA Labs UAE is 4400 AED. This test is a crucial step in confirming the diagnosis, which can help in managing the condition more effectively through personalized treatment plans and genetic counseling for affected families. It also provides valuable information for understanding the prognosis and potential participation in clinical trials or therapies targeting the underlying genetic cause.

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POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N Genetic Test

Welcome to DNA Labs UAE, your trusted genetic lab for advanced genetic testing. We offer the POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N Genetic Test at a cost of AED 4400.0.

Test Details

The POMT1 gene is associated with a form of limb-girdle muscular dystrophy called autosomal recessive type 2N (LGMD2N). This genetic condition is characterized by progressive muscle weakness and wasting, primarily affecting the muscles of the shoulders, hips, and upper arms and legs.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the context of LGMD2N, NGS genetic testing can be used to identify mutations or variations in the POMT1 gene that may be responsible for the condition.

By analyzing the POMT1 gene using NGS, healthcare professionals can identify specific genetic changes that may be causing LGMD2N. This information can help with diagnosis, prognosis, and potential treatment options for individuals with this condition.

Test Components and Price

  • Test Name: POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N Genetic Test
  • Price: AED 4400.0

Sample Condition

We accept the following sample conditions for this test:

  • Blood
  • Extracted DNA
  • One drop of blood on FTA Card

Report Delivery

After conducting the test, the report will be delivered within 3 to 4 weeks.

Test Method

We use NGS Technology for the POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N Genetic Test.

Test Type

This test falls under the category of Neurological Disorders.

Doctor and Test Department

The test is conducted by a Neurologist in our Genetics Test Department.

Pre Test Information

Before undergoing the POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N NGS Genetic DNA Test, it is important to provide the following information:

  • Clinical History of the patient who is going for the test
  • A Genetic Counselling session to draw a pedigree chart of family members affected with POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N

Our team of experts will guide you through the process and ensure accurate results.

Test Name POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N
Test Details

The POMT1 gene is associated with a form of limb-girdle muscular dystrophy called autosomal recessive type 2N (LGMD2N). This genetic condition is characterized by progressive muscle weakness and wasting, primarily affecting the muscles of the shoulders, hips, and upper arms and legs.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the context of LGMD2N, NGS genetic testing can be used to identify mutations or variations in the POMT1 gene that may be responsible for the condition.

By analyzing the POMT1 gene using NGS, healthcare professionals can identify specific genetic changes that may be causing LGMD2N. This information can help with diagnosis, prognosis, and potential treatment options for individuals with this condition.