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Requisites
Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

Maximum Days for Report:

  • Standard Turnaround Time: 21 days
  • Expedited Turnaround Time: 14 days
  • Rush Turnaround Time: 7 days

What are the prerequisites for the test Glycine Encephalopathy Gene Panel

  • Confirmation of clinical diagnosis of glycine encephalopathy
  • Physician's order for genetic testing
  • Complete the test requisition form
  • Submit a blood sample from the patient

What are the measure values for the test Glycine Encephalopathy Gene Panel

  • Glycine levels in plasma: Normal range: 2-16 μmol/L
  • Glycine levels in CSF: Normal range: 0.2-1.1 μmol/L
  • CSF/Plasma glycine ratio: Normal range: <0.08
  • AGXT gene: Normal result: No mutations detected
  • GLDC gene: Normal result: No mutations detected
  • AMT gene: Normal result: No mutations detected
  • SERINC gene: Normal result: No mutations detected

What does this test Glycine Encephalopathy Gene Panel identify?

The Glycine Encephalopathy Gene Panel is a genetic test that identifies mutations in genes associated with glycine encephalopathy, a rare metabolic disorder. This panel specifically looks for mutations in the following genes:

  • GCSH
  • GLDC
  • AMT
  • DLD

These genes are involved in the normal breakdown of glycine in the body. Mutations in these genes can lead to a buildup of glycine, which can cause neurological symptoms such as seizures, developmental delay, and intellectual disability. Identifying mutations in these genes can help diagnose glycine encephalopathy and guide treatment and management strategies for affected individuals.

Why is this test Glycine Encephalopathy Gene Panel taken?

Reason for taking Glycine Encephalopathy Gene Panel Test:

Glycine Encephalopathy, also known as Non-Ketotic Hyperglycinemia (NKH), is a rare genetic disorder characterized by elevated levels of glycine in the body, particularly in the brain. This condition is caused by mutations in genes that are involved in glycine metabolism.

The Glycine Encephalopathy Gene Panel Test is taken to identify mutations in specific genes associated with Glycine Encephalopathy. This genetic testing helps in confirming a diagnosis of Glycine Encephalopathy, as well as determining the specific genetic cause of the condition. It can also be used for carrier testing in families with a history of Glycine Encephalopathy.

Early detection of mutations in these genes through the Glycine Encephalopathy Gene Panel Test can guide treatment decisions, provide information about prognosis, and help in genetic counseling for affected individuals and their families.

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