SLC5A7 Gene Myasthenic Syndrome Congenital Type 20 Presynaptic Genetic Test sale cost 4400 AED
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SLC5A7 Gene Myasthenic Syndrome Congenital Type 20 Presynaptic Genetic Test Cost

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

-21%

The “SLC5A7 Gene Myasthenic Syndrome Congenital Type 20 Presynaptic Genetic Test” is a specialized diagnostic assessment designed to identify mutations in the SLC5A7 gene, which are associated with Congenital Myasthenic Syndrome Type 20 (CMS20). This condition falls under a broader category of genetic disorders known as congenital myasthenic syndromes (CMS), which are characterized by muscle weakness and fatigue due to the impaired transmission of signals between nerves and muscles. The SLC5A7 gene plays a crucial role in the presynaptic region of the neuromuscular junction, and its mutations can lead to a deficiency in the release of acetylcholine, a key neurotransmitter for muscle contraction.

This genetic test is conducted through a blood sample, where DNA is extracted and analyzed for any abnormalities or mutations in the SLC5A7 gene. It is particularly valuable for individuals exhibiting symptoms of muscle weakness, fatigue without an obvious cause, or those with a family history of CMS. Early and accurate diagnosis through this test can lead to better management and treatment options for the affected individuals.

The test is available at DNA Labs UAE, a leading facility in genetic testing and analysis. The cost of the test is 4400 AED, which reflects the comprehensive nature of the analysis, including the use of advanced genetic sequencing technologies and the expertise required to interpret the results accurately. This test is a critical step towards personalized medicine for patients with CMS20, offering them a chance for improved quality of life through targeted therapies and interventions based on their genetic makeup.

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SLC5A7 Gene Myasthenic Syndrome Congenital Type 20 Presynaptic Genetic Test

At DNA Labs UAE, we offer the SLC5A7 Gene Myasthenic Syndrome Congenital Type 20 Presynaptic Genetic Test. This test is designed to diagnose individuals with congenital myasthenic syndrome type 20, a specific type of congenital myasthenic syndrome associated with the SLC5A7 gene.

Test Components

The SLC5A7 Gene Myasthenic Syndrome Congenital Type 20 Presynaptic Genetic Test includes the following 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

Prior to undergoing the SLC5A7 Gene Myasthenic Syndrome Congenital Type 20 Presynaptic Genetic Test, it is important to provide the following:

  • Clinical History of Patient who is going for SLC5A7 Gene Myasthenic Syndrome, congenital, type 20, presynaptic NGS Genetic DNA Test
  • A Genetic Counselling session to draw a pedigree chart of family members affected with SLC5A7 Gene Myasthenic Syndrome, congenital, type 20, presynaptic

Test Details

The SLC5A7 gene is associated with a specific type of congenital myasthenic syndrome, known as type 20. This condition is characterized by weakness and fatigue of the muscles due to a disruption in the communication between nerve cells and muscle cells (neuromuscular junction).

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the context of myasthenic syndrome, NGS testing can identify genetic mutations or variations in the SLC5A7 gene that may be responsible for the condition.

By performing NGS genetic testing on the SLC5A7 gene, healthcare professionals can accurately diagnose individuals with congenital myasthenic syndrome type 20. This information is crucial for proper management and treatment of the condition.

Test Name SLC5A7 Gene Myasthenic syndrome congenital type 20 presynaptic 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 SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic
Test Details

The SLC5A7 gene is associated with a specific type of congenital myasthenic syndrome, known as type 20. This condition is characterized by weakness and fatigue of the muscles due to a disruption in the communication between nerve cells and muscle cells (neuromuscular junction).

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the context of myasthenic syndrome, NGS testing can identify genetic mutations or variations in the SLC5A7 gene that may be responsible for the condition.

By performing NGS genetic testing on the SLC5A7 gene, healthcare professionals can accurately diagnose individuals with congenital myasthenic syndrome type 20. This information is crucial for proper management and treatment of the condition.

SKU: TEST-1779 Category:

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