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AMT Gene Glycine Encephalopathy Genetic Test

4,400 د.إ

-21%

The AMT Gene Glycine Encephalopathy Genetic Test is a specialized diagnostic procedure designed to detect mutations in the AMT gene, which are associated with Glycine Encephalopathy, also known as Nonketotic Hyperglycinemia (NKH). This condition is a rare genetic disorder characterized by an excess of glycine in the brain, leading to severe neurological symptoms such as intellectual disability, seizures, and hypotonia. Early detection through genetic testing is crucial for managing symptoms and improving the quality of life for affected individuals.

Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test involves collecting a DNA sample from the patient, usually through a blood draw or buccal swab. The laboratory then examines the AMT gene for specific mutations known to cause Glycine Encephalopathy. This test is particularly important for families with a history of the condition or for newborns showing symptoms suggestive of NKH.

The cost of the AMT Gene Glycine Encephalopathy Genetic Test at DNA Labs UAE is 4400 AED. While the price may seem significant, the value of obtaining a definitive diagnosis cannot be overstated, as it opens the door to targeted treatments and interventions that can significantly improve outcomes for those affected by this challenging condition.

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AMT Gene Glycine encephalopathy Genetic Test

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

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: Neurological Disorders

Doctor: Neurologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for AMT Gene Glycine encephalopathy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AMT Gene Glycine encephalopathy.

Test Details: The AMT gene is responsible for producing the enzyme aminomethyltransferase, which plays a crucial role in the breakdown of the amino acid glycine. Mutations in the AMT gene can cause a rare metabolic disorder called glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH). NGS (Next-Generation Sequencing) genetic testing is a method of sequencing DNA that can analyze multiple genes at once, allowing for a more comprehensive analysis of genetic mutations. NGS testing can be used to identify mutations in the AMT gene that may be causing glycine encephalopathy. Glycine encephalopathy is a rare disorder that affects the central nervous system and can cause developmental delays, seizures, and other neurological symptoms. Early diagnosis through genetic testing can help with early intervention and management of symptoms.

Test Name AMT Gene Glycine encephalopathy 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 AMT Gene Glycine encephalopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AMT Gene Glycine encephalopathy
Test Details

The AMT gene is responsible for producing the enzyme aminomethyltransferase, which plays a crucial role in the breakdown of the amino acid glycine. Mutations in the AMT gene can cause a rare metabolic disorder called glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH).

NGS (Next-Generation Sequencing) genetic testing is a method of sequencing DNA that can analyze multiple genes at once, allowing for a more comprehensive analysis of genetic mutations. NGS testing can be used to identify mutations in the AMT gene that may be causing glycine encephalopathy.

Glycine encephalopathy is a rare disorder that affects the central nervous system and can cause developmental delays, seizures, and other neurological symptoms. Early diagnosis through genetic testing can help with early intervention and management of symptoms.