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:
- 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.
- 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.
- 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. |
