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

4,400 د.إ

-21%

The POMT1 gene limb-girdle muscular dystrophy autosomal recessive type 2K genetic test is a specialized diagnostic tool designed to identify mutations in the POMT1 gene, which are responsible for causing limb-girdle muscular dystrophy type 2K (LGMD2K). This form of muscular dystrophy is characterized by progressive weakness and wasting of the muscles around the hips and shoulders (the limb-girdle area), often leading to difficulties with mobility and daily activities. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

The test is available at DNA Labs UAE, a leading facility in genetic diagnostics and research. The cost of the test is 4400 AED, and it involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of mutations in the POMT1 gene. This genetic test is crucial for accurate diagnosis, allowing for better management and treatment planning for individuals affected by LGMD2K. It can also provide valuable information for family planning and genetic counseling for families affected by this condition.

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

At DNA Labs UAE, we offer the POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2K Genetic Test at a cost of AED 4400.0.

Test Details

The POMT1 gene is associated with a specific form of limb-girdle muscular dystrophy called autosomal recessive type 2K (LGMD2K). This type of muscular dystrophy is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition.

NGS genetic testing refers to Next-Generation Sequencing, a high-throughput method used to analyze a person’s DNA sequence. In the context of LGMD2K, NGS genetic testing can be used to identify mutations in the POMT1 gene that may be responsible for the condition. This type of testing can help confirm a diagnosis, guide treatment decisions, and provide information about the likelihood of passing on the condition to future generations.

It’s important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and support.

Test Components and Price

Test Name: POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2K Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

Price: AED 4400.0

Sample Condition

Blood or Extracted DNA or One drop Blood on FTA Card

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 2K 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 2K

Test Name POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2K 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 2K 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 2K
Test Details

The POMT1 gene is associated with a specific form of limb-girdle muscular dystrophy called autosomal recessive type 2K (LGMD2K). This type of muscular dystrophy is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition.

NGS genetic testing refers to Next-Generation Sequencing, a high-throughput method used to analyze a person’s DNA sequence. In the context of LGMD2K, NGS genetic testing can be used to identify mutations in the POMT1 gene that may be responsible for the condition. This type of testing can help confirm a diagnosis, guide treatment decisions, and provide information about the likelihood of passing on the condition to future generations.

It’s important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and support.