GAMT Gene Guanidinoacetate Methyltransferase Deficiency Genetic Test
Test Details:
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare genetic disorder that affects the production of creatine in the body. Creatine is an important molecule involved in energy metabolism, particularly in the brain and muscles. GAMT deficiency is caused by mutations in the GAMT gene, which is responsible for producing the enzyme guanidinoacetate methyltransferase. This enzyme is necessary for the conversion of guanidinoacetate to creatine.
Individuals with GAMT deficiency are unable to produce creatine and therefore have a buildup of guanidinoacetate in their body. This can lead to a variety of symptoms, including intellectual disability, developmental delay, seizures, movement disorders, and behavioral problems.
Test Name:
GAMT Gene Guanidinoacetate Methyltransferase 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 GAMT Gene Guanidinoacetate Methyltransferase Deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Guanidinoacetate methyltransferase deficiency.
Test Procedure:
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to identify mutations in the GAMT gene. NGS technology allows for the sequencing of multiple genes simultaneously, making it a more efficient and cost-effective method compared to traditional Sanger sequencing. By identifying mutations in the GAMT gene through NGS genetic testing, individuals with suspected GAMT deficiency can receive a definitive diagnosis.
Treatment:
Treatment for GAMT deficiency often involves the supplementation of creatine and a low-arginine diet to reduce the buildup of guanidinoacetate. It is important to consult with a healthcare professional or genetic counselor to discuss the appropriateness and availability of NGS genetic testing for GAMT deficiency.
| Test Name | GAMT Gene Guanidinoacetate methyltransferase 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 GAMT Gene Guanidinoacetate methyltransferase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Guanidinoacetate methyltransferase deficiency |
| Test Details |
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare genetic disorder that affects the production of creatine in the body. Creatine is an important molecule involved in energy metabolism, particularly in the brain and muscles. GAMT deficiency is caused by mutations in the GAMT gene, which is responsible for producing the enzyme guanidinoacetate methyltransferase. This enzyme is necessary for the conversion of guanidinoacetate to creatine. Individuals with GAMT deficiency are unable to produce creatine and therefore have a buildup of guanidinoacetate in their body. This can lead to a variety of symptoms, including intellectual disability, developmental delay, seizures, movement disorders, and behavioral problems. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to identify mutations in the GAMT gene. NGS technology allows for the sequencing of multiple genes simultaneously, making it a more efficient and cost-effective method compared to traditional Sanger sequencing. By identifying mutations in the GAMT gene through NGS genetic testing, individuals with suspected GAMT deficiency can receive a definitive diagnosis. This can help guide treatment decisions and provide important information for family planning. Treatment for GAMT deficiency often involves the supplementation of creatine and a low-arginine diet to reduce the buildup of guanidinoacetate. It is important to consult with a healthcare professional or genetic counselor to discuss the appropriateness and availability of NGS genetic testing for GAMT deficiency. |
