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GMPPA Gene Alacrima Achalasia and Mental Retardation Syndrome Genetic Test

4,400 د.إ

-21%

The GMPPA gene Alacrima Achalasia and Mental Retardation Syndrome (AAMR) genetic test is a specialized diagnostic procedure aimed at identifying mutations in the GMPPA gene, which are associated with the rare AAMR syndrome. This condition is characterized by a trio of primary symptoms: alacrima (a lack of tears), achalasia (a disorder affecting the ability of the esophagus to move food toward the stomach), and mental retardation. Given the complexity and rarity of this syndrome, genetic testing plays a crucial role in its diagnosis and management.

Performed at DNA Labs UAE, the test is conducted through a comprehensive analysis of the patient’s DNA, specifically targeting the GMPPA gene to detect any abnormalities or mutations that could indicate the presence of AAMR syndrome. The procedure is highly technical, requiring a sample of the patient’s blood or saliva, from which DNA is extracted and meticulously examined for the genetic markers of the syndrome.

The cost of the GMPPA gene AAMR syndrome genetic test at DNA Labs UAE is set at 4400 AED. This price reflects the sophisticated nature of the testing process and the specialized expertise required to interpret the results accurately. Upon completion, the test provides valuable insights that can guide healthcare professionals in developing an effective treatment and management plan for individuals diagnosed with this challenging condition.

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GMPPA Gene Alacrima Achalasia and Mental Retardation Syndrome Genetic Test

Test Name: GMPPA Gene Alacrima Achalasia and Mental Retardation Syndrome Genetic Test

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

Price: 4400.0 AED

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test Type: Dysmorphology

Doctor: Pediatrics

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for GMPPA Gene Alacrima, Achalasia and Mental Retardation Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GMPPA Gene Alacrima, Achalasia and Mental Retardation Syndrome NGS Genetic DNA Test gene GMPPA

Test Details

The GMPPA gene is responsible for producing a protein called GDP-mannose pyrophosphorylase A, which plays a crucial role in the production of mannose, an essential sugar molecule. Mutations in the GMPPA gene can lead to a rare genetic disorder known as GMPPA gene alacrima, achalasia, and mental retardation syndrome.

This syndrome is characterized by three main features:

  1. Alacrima: This refers to the absence or reduced production of tears, leading to dry eyes. Individuals with this syndrome may experience dryness, irritation, and a lack of lubrication in their eyes.
  2. Achalasia: This is a condition in which the muscles of the esophagus (the tube that connects the mouth to the stomach) fail to relax properly, leading to difficulty swallowing. Individuals with achalasia may experience regurgitation, chest pain, and weight loss.
  3. Mental retardation: This syndrome is also associated with intellectual disability, which can range from mild to severe. Individuals may have learning difficulties, delayed speech and language development, and impaired cognitive abilities.

To diagnose GMPPA gene alacrima, achalasia, and mental retardation syndrome, a genetic test known as next-generation sequencing (NGS) can be performed. NGS is a high-throughput DNA sequencing technique that allows for the simultaneous analysis of multiple genes. It can identify mutations or variations in the GMPPA gene that are associated with this syndrome.

Genetic testing can help confirm a diagnosis, provide information about the specific genetic mutation, and guide treatment and management options. It can also help determine the risk of passing the condition on to future generations and provide genetic counseling for affected individuals and their families.

It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate recommendations.

Test Name GMPPA Gene Alacrima achalasia and mental retardation 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 Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic DNA Test gene GMPPA
Test Details

The GMPPA gene is responsible for producing a protein called GDP-mannose pyrophosphorylase A, which plays a crucial role in the production of mannose, an essential sugar molecule. Mutations in the GMPPA gene can lead to a rare genetic disorder known as GMPPA gene alacrima, achalasia, and mental retardation syndrome.

This syndrome is characterized by three main features:

1. Alacrima: This refers to the absence or reduced production of tears, leading to dry eyes. Individuals with this syndrome may experience dryness, irritation, and a lack of lubrication in their eyes.

2. Achalasia: This is a condition in which the muscles of the esophagus (the tube that connects the mouth to the stomach) fail to relax properly, leading to difficulty swallowing. Individuals with achalasia may experience regurgitation, chest pain, and weight loss.

3. Mental retardation: This syndrome is also associated with intellectual disability, which can range from mild to severe. Individuals may have learning difficulties, delayed speech and language development, and impaired cognitive abilities.

To diagnose GMPPA gene alacrima, achalasia, and mental retardation syndrome, a genetic test known as next-generation sequencing (NGS) can be performed. NGS is a high-throughput DNA sequencing technique that allows for the simultaneous analysis of multiple genes. It can identify mutations or variations in the GMPPA gene that are associated with this syndrome.

Genetic testing can help confirm a diagnosis, provide information about the specific genetic mutation, and guide treatment and management options. It can also help determine the risk of passing the condition on to future generations and provide genetic counseling for affected individuals and their families.

It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate recommendations.

SKU: TEST-3978 Category:

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