GATM Gene Arginine-glycine amidinotransferase deficiency Genetic Test
At DNA Labs UAE, we offer the GATM Gene Arginine-glycine amidinotransferase deficiency Genetic Test at a cost of AED 4400.0. This test is used to diagnose GATM deficiency, a genetic disorder caused by mutations in the GATM gene.
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: Metabolic Disorders
- Doctor: General Physician
- Test Department: Genetics
Pre Test Information
Prior to the GATM Gene Arginine-glycine amidinotransferase deficiency Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Arginine-glycine amidinotransferase deficiency.
Test Details
The GATM gene, also known as arginine-glycine amidinotransferase, is responsible for producing an enzyme called guanidinoacetate methyltransferase. This enzyme is involved in the synthesis of creatine, which is crucial for energy metabolism in tissues with high energy demands such as the brain and muscles.
Deficiency of the GATM gene leads to a condition called arginine-glycine amidinotransferase deficiency or GATM deficiency. This is an autosomal recessive disorder, meaning that both copies of the GATM gene must be mutated for the condition to develop.
Individuals with GATM deficiency have impaired creatine synthesis, resulting in low levels of creatine in their body. This can lead to various symptoms, including intellectual disability, muscle weakness, delayed development, and seizures. The severity of symptoms can vary among affected individuals.
NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously. In the case of GATM deficiency, NGS genetic testing can identify mutations in the GATM gene. This testing helps confirm the diagnosis of GATM deficiency and provides information about the specific mutations present in an individual.
NGS genetic testing is particularly useful when the clinical presentation is unclear or when there is a suspicion of GATM deficiency based on symptoms. It can also be used for carrier testing in individuals with a family history of GATM deficiency.
Overall, NGS genetic testing for GATM gene mutations provides valuable information for diagnosis, prognosis, and genetic counseling for individuals and families affected by GATM deficiency.
| Test Name | GATM Gene Arginine-glycine amidinotransferase deficiency 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for GATM Gene Arginine-glycine amidinotransferase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Arginine-glycine amidinotransferase deficiency |
| Test Details |
GATM gene, also known as arginine-glycine amidinotransferase, is responsible for producing an enzyme called guanidinoacetate methyltransferase. This enzyme is involved in the synthesis of creatine, which plays a crucial role in energy metabolism, particularly in tissues with high energy demands such as the brain and muscles. Deficiency of GATM gene leads to a condition called arginine-glycine amidinotransferase deficiency or GATM deficiency. This is an autosomal recessive disorder, meaning that both copies of the GATM gene must be mutated to develop the condition. Individuals with GATM deficiency have impaired creatine synthesis, leading to low levels of creatine in their body. This can result in various symptoms, including intellectual disability, muscle weakness, delayed development, and seizures. The severity of symptoms can vary widely among affected individuals. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously. In the context of GATM deficiency, NGS genetic testing can be used to identify mutations in the GATM gene. This testing can help confirm the diagnosis of GATM deficiency and provide information about the specific mutations present in an individual. NGS genetic testing can be particularly useful in cases where the clinical presentation is not clear or when there is a suspicion of GATM deficiency based on symptoms. It can also be used for carrier testing in individuals with a family history of GATM deficiency. Overall, NGS genetic testing for GATM gene mutations can provide valuable information for diagnosis, prognosis, and genetic counseling for individuals and families affected by GATM deficiency. |
