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COLQ Gene Endplate acetylcholinesterase deficiency Genetic Test

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

-21%

The COLQ gene is crucial for the proper functioning of the neuromuscular junction, where nerve cells meet muscle cells to facilitate muscle contraction. Mutations in the COLQ gene can lead to a condition known as endplate acetylcholinesterase deficiency. This genetic disorder disrupts the breakdown of the neurotransmitter acetylcholine, leading to prolonged muscle contraction and resulting in symptoms such as muscle weakness and fatigue.

To diagnose this condition, a genetic test targeting the COLQ gene can be conducted. This test is available at DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The test specifically looks for mutations in the COLQ gene that are known to cause endplate acetylcholinesterase deficiency. Identifying these mutations can help in confirming the diagnosis, understanding the disease progression, and planning appropriate management strategies for affected individuals.

The cost of the COLQ Gene Endplate Acetylcholinesterase Deficiency Genetic Test at DNA Labs UAE is 4400 AED. This price includes the cost of sample collection, genetic analysis, and a comprehensive report of the findings. Patients considering this test should consult with their healthcare provider to discuss its relevance and implications based on their symptoms and medical history.

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COLQ Gene Endplate Acetylcholinesterase Deficiency Genetic Test

At DNA Labs UAE, we offer the COLQ Gene Endplate Acetylcholinesterase Deficiency Genetic Test. This test is designed to detect mutations in the COLQ gene that may be responsible for endplate acetylcholinesterase deficiency (EAED), a condition caused by a deficiency of acetylcholinesterase (AChE) at the neuromuscular junction.

Test Details

The COLQ gene is responsible for producing the protein collagen-like tail subunit (ColQ), which is necessary for the proper functioning of AChE at the neuromuscular junction. Mutations in the COLQ gene can result in a deficiency of AChE, leading to EAED.

Our NGS genetic test involves sequencing the entire coding region of the COLQ gene to identify any genetic variations that may affect its function. This test is specifically designed for individuals with neurological disorders.

Test Components and Price

The price for the COLQ Gene Endplate Acetylcholinesterase Deficiency Genetic Test is 4400.0 AED. The test can be conducted using a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

Once the sample is received, the report will be delivered within 3 to 4 weeks.

Referring Doctor and Test Department

This test is recommended to be performed by a neurologist. It falls under the Genetics department of our laboratory.

Pre Test Information

Prior to the test, it is important to provide the clinical history of the patient who is going for the COLQ Gene Endplate Acetylcholinesterase Deficiency NGS Genetic DNA Test. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with EAED.

Benefits of Early Diagnosis

Early diagnosis of EAED through genetic testing can help guide treatment and management of the condition. It also provides valuable information for family planning and genetic counseling.

For more information or to schedule an appointment, please contact DNA Labs UAE.

Test Name COLQ Gene Endplate acetylcholinesterase deficiency 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 COLQ Gene Endplate acetylcholinesterase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COLQ Gene Endplate acetylcholinesterase deficiency
Test Details

The COLQ gene is responsible for producing the protein collagen-like tail subunit (ColQ), which is necessary for the proper functioning of acetylcholinesterase (AChE) at the neuromuscular junction. Mutations in the COLQ gene can result in a deficiency of AChE at the neuromuscular junction, leading to a condition called endplate acetylcholinesterase deficiency (EAED).

An NGS genetic test can be used to detect mutations in the COLQ gene that may be responsible for EAED. This test involves sequencing the entire coding region of the COLQ gene to identify any genetic variations that may affect its function.

Early diagnosis of EAED through genetic testing can help guide treatment and management of the condition, as well as provide valuable information for family planning and genetic counseling.