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FKRP Gene Limb-girdle muscular dystrophy autosomal recessive type 2I Genetic Test

4,400 د.إ

-21%

The FKRP gene limb-girdle muscular dystrophy autosomal recessive type 2I genetic test is a specialized diagnostic tool designed to detect mutations in the FKRP gene, which are responsible for causing limb-girdle muscular dystrophy type 2I (LGMD2I). This form of muscular dystrophy is characterized by progressive muscle weakness and wasting, primarily affecting the muscles around the hips and shoulders (the limb-girdle area). It is inherited in an autosomal recessive manner, meaning that two copies of the defective gene, one from each parent, are required for the condition to manifest.

The test involves analyzing the patient’s DNA, extracted from a blood sample, to identify mutations in the FKRP gene that are linked to LGMD2I. This genetic test is crucial for accurate diagnosis, allowing for early intervention, management plans, and genetic counseling for affected families. It also helps in distinguishing LGMD2I from other forms of muscular dystrophy and related disorders.

Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test is priced at 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experts in genetic analysis, ensuring high-quality testing and reliable results. This test is an essential resource for individuals exhibiting symptoms of limb-girdle muscular dystrophy, as well as for their families seeking to understand their genetic health and risks.

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FKRP Gene Limb-girdle muscular dystrophy autosomal recessive type 2I Genetic Test

At DNA Labs UAE, we offer the FKRP Gene Limb-girdle muscular dystrophy autosomal recessive type 2I Genetic Test. This test helps diagnose and identify the causes of this genetic disorder.

Test Details

FKRP gene limb-girdle muscular dystrophy, autosomal recessive type 2I is a genetic disorder characterized by progressive muscle weakness and wasting. It is caused by mutations in the FKRP gene, which is involved in the glycosylation of alpha-dystroglycan, an important protein for muscle function.

Our NGS (Next-Generation Sequencing) genetic testing method allows us to analyze multiple genes simultaneously, providing accurate and comprehensive results. In the case of FKRP gene limb-girdle muscular dystrophy, autosomal recessive type 2I, this test involves sequencing the FKRP gene to identify any mutations or variations that may be causing the disorder.

This type of genetic test can help confirm a diagnosis of FKRP gene limb-girdle muscular dystrophy, autosomal recessive type 2I, and can also be used for carrier testing and prenatal diagnosis in families with a known mutation in the FKRP gene. It provides important information for genetic counseling and helps guide treatment and management decisions for individuals affected by the disorder.

Test Components and Price

Test Name: FKRP Gene Limb-girdle muscular dystrophy autosomal recessive type 2I Genetic Test

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

Price: 4400.0 AED

Sample Condition

We accept blood samples, extracted DNA, or one drop of blood on FTA Card for this test.

Report Delivery

The test results will be delivered within 3 to 4 weeks after sample submission.

Test Type and Doctor

Test Type: Neurological Disorders

Doctor: Neurologist

Test Department

Test Department: Genetics

Pre Test Information

Before undergoing the FKRP Gene Limb-girdle muscular dystrophy autosomal recessive type 2I NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with FKRP Gene Limb-girdle muscular dystrophy, autosomal recessive type 2I.

Test Name FKRP Gene Limb-girdle muscular dystrophy autosomal recessive type 2I 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 FKRP Gene Limb-girdle muscular dystrophy, autosomal recessive type 2I NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FKRP Gene Limb-girdle muscular dystrophy, autosomal recessive type 2I
Test Details

FKRP gene limb-girdle muscular dystrophy, autosomal recessive type 2I is a genetic disorder characterized by progressive muscle weakness and wasting. It is caused by mutations in the FKRP gene, which is involved in the glycosylation of alpha-dystroglycan, an important protein for muscle function.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of FKRP gene limb-girdle muscular dystrophy, autosomal recessive type 2I, an NGS genetic test would involve sequencing the FKRP gene to identify any mutations or variations that may be causing the disorder.

This type of genetic test can help confirm a diagnosis of FKRP gene limb-girdle muscular dystrophy, autosomal recessive type 2I, and can also be used for carrier testing and prenatal diagnosis in families with a known mutation in the FKRP gene. It can provide important information for genetic counseling and help guide treatment and management decisions for individuals affected by the disorder.