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L1CAM Gene MASA syndrome Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The L1CAM gene plays a crucial role in the nervous system’s development, particularly in the brain and spinal cord. Mutations in the L1CAM gene are associated with MASA syndrome, a rare genetic disorder that affects the development of the nervous system, leading to a range of symptoms including intellectual disability, aphasia, shuffling gait, and adducted thumbs. MASA is an acronym for the key features of the syndrome: Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs.

To diagnose MASA syndrome, genetic testing of the L1CAM gene is essential. DNA Labs UAE offers a comprehensive genetic test for the L1CAM gene to identify mutations that could indicate MASA syndrome. This test is crucial for families seeking answers to developmental delays and neurological symptoms in their children, providing them with a clear diagnosis and the possibility of genetic counseling.

The cost of the L1CAM gene MASA syndrome genetic test at DNA Labs UAE is 4400 AED. This test is conducted with the utmost confidentiality and accuracy, using state-of-the-art technology to ensure reliable results. Families and individuals opting for this test at DNA Labs UAE can expect professional guidance throughout the testing process, from sample collection to the interpretation of results.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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L1CAM Gene MASA syndrome 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 L1CAM Gene MASA syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with L1CAM Gene MASA syndrome.

Test Details

The L1CAM gene is associated with a genetic disorder known as MASA syndrome. MASA syndrome is a rare X-linked recessive disorder that primarily affects males. It is characterized by a range of symptoms including mild to moderate intellectual disability, delayed speech development, muscle weakness or hypotonia, and spasticity in the lower limbs. Other features may include hydrocephalus, agenesis of the corpus callosum (absence of the connecting structure between the brain hemispheres), and abnormalities in the genitalia.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of MASA syndrome, NGS genetic testing can be used to identify mutations or variants in the L1CAM gene that may be responsible for the disorder. This test can help confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing on the condition to future generations.

Test Name L1CAM Gene MASA syndrome 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 L1CAM Gene MASA syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with L1CAM Gene MASA syndrome
Test Details

The L1CAM gene is associated with a genetic disorder known as MASA syndrome. MASA syndrome is a rare X-linked recessive disorder that primarily affects males. It is characterized by a range of symptoms including mild to moderate intellectual disability, delayed speech development, muscle weakness or hypotonia, and spasticity in the lower limbs. Other features may include hydrocephalus, agenesis of the corpus callosum (absence of the connecting structure between the brain hemispheres), and abnormalities in the genitalia.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of MASA syndrome, NGS genetic testing can be used to identify mutations or variants in the L1CAM gene that may be responsible for the disorder. This test can help confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing on the condition to future generations.