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FKTN Gene Fukuyama Congenital Muscular Dystrophy Genetic Test

4,400 د.إ

-21%

Fukuyama Congenital Muscular Dystrophy (FCMD) is a severe genetic disorder primarily affecting muscle function and development, leading to muscle weakness and brain and eye abnormalities. It is caused by mutations in the FKTN gene, which plays a crucial role in maintaining muscle cell integrity. 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.

To diagnose FCMD and identify the specific FKTN gene mutations, a genetic test is available at DNA Labs UAE. This test involves analyzing the patient’s DNA to search for mutations in the FKTN gene that are known to cause the condition. It is a critical step for confirming the diagnosis, understanding the disease’s progression, and informing family planning decisions.

The cost of the FKTN Gene Fukuyama Congenital Muscular Dystrophy Genetic Test at DNA Labs UAE is 4400 AED. This test is a valuable resource for families affected by or at risk of FCMD, providing them with essential information for managing the condition and planning for the future.

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FKTN Gene Fukuyama congenital muscular dystrophy Genetic Test

Components

Price: 4400.0 AED

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 FKTN Gene Fukuyama congenital muscular dystrophy NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with FKTN Gene Fukuyama congenital muscular dystrophy

Test Details

FKTN gene is associated with Fukuyama congenital muscular dystrophy (FCMD), which is a rare genetic disorder that affects muscle function and brain development. FCMD is caused by mutations in the FKTN gene, which provides instructions for making a protein called fukutin. This protein is involved in the development and maintenance of muscle cells and the brain.

NGS (next-generation sequencing) genetic testing is a diagnostic tool used to identify mutations in genes associated with genetic disorders. NGS can analyze multiple genes simultaneously, making it a useful tool for identifying the genetic cause of complex disorders like FCMD.

NGS genetic testing for FCMD involves analyzing the FKTN gene to identify mutations that may be causing the disorder. This test can help diagnose FCMD in individuals who are experiencing symptoms of the disorder, such as muscle weakness, delayed motor development, and intellectual disability.

Early diagnosis of FCMD through NGS genetic testing can help individuals and their families better understand the disorder and make informed decisions about treatment and management options. It can also help identify carriers of the mutation, which can inform family planning decisions.

Test Name FKTN Gene Fukuyama congenital muscular dystrophy 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 FKTN Gene Fukuyama congenital muscular dystrophy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FKTN Gene Fukuyama congenital muscular dystrophy
Test Details

FKTN gene is associated with Fukuyama congenital muscular dystrophy (FCMD), which is a rare genetic disorder that affects muscle function and brain development. FCMD is caused by mutations in the FKTN gene, which provides instructions for making a protein called fukutin. This protein is involved in the development and maintenance of muscle cells and the brain.

NGS (next-generation sequencing) genetic testing is a diagnostic tool used to identify mutations in genes associated with genetic disorders. NGS can analyze multiple genes simultaneously, making it a useful tool for identifying the genetic cause of complex disorders like FCMD.

NGS genetic testing for FCMD involves analyzing the FKTN gene to identify mutations that may be causing the disorder. This test can help diagnose FCMD in individuals who are experiencing symptoms of the disorder, such as muscle weakness, delayed motor development, and intellectual disability.

Early diagnosis of FCMD through NGS genetic testing can help individuals and their families better understand the disorder and make informed decisions about treatment and management options. It can also help identify carriers of the mutation, which can inform family planning decisions.