Short Description

The ratio of Glycine in plasma & CSF is a diagnostic criteria for Non-Ketotic hyperglycinemia (NKH).

PreTest Information

Clinical details and drug history must accompany sample. CSF & Plasma specimens should be drawn at the same time.

Detail Description

AMINO ACID NON-KETOTIC HYPERGLYCINEMIA PANEL QUANTITATIVE CSF & PLASMA Test

AMINO ACID NON-KETOTIC HYPERGLYCINEMIA PANEL QUANTITATIVE CSF & PLASMA Test is a diagnostic test that helps in identifying the levels of glycine in the cerebrospinal fluid (CSF) and plasma of a patient. The test is used to diagnose a rare genetic disorder called Amino Acid Non-Ketotic Hyperglycinemia (NKH).

Symptoms

The symptoms of NKH can vary from mild to severe and can include:

• Seizures
• Low muscle tone
• Poor feeding
• Lethargy
• Developmental delays

Diagnosis

The diagnosis of NKH is done through a combination of tests that include:

• AMINO ACID NON-KETOTIC HYPERGLYCINEMIA PANEL QUANTITATIVE CSF & PLASMA Test
• Blood tests
• Urine tests
• Magnetic Resonance Imaging (MRI)

Test Cost

The cost of the AMINO ACID NON-KETOTIC HYPERGLYCINEMIA PANEL QUANTITATIVE CSF & PLASMA Test at DNA Labs India is INR 9000.

If you suspect that you or your child may have NKH, it is important to seek medical attention immediately. Early diagnosis and treatment can help manage the symptoms and improve the quality of life.

Amino Acid Non-Ketotic Hyperglycinemia (NKH) is a rare genetic disorder that affects the breakdown of the amino acid glycine. It leads to the accumulation of glycine in the body, particularly in the brain, causing neurological symptoms. The "AMINO ACID NON-KETOTIC HYPERGLYCINEMIA PANEL QUANTITATIVE CSF & PLASMA" test is a diagnostic test used to assess the levels of glycine in both cerebrospinal fluid (CSF) and plasma.

Here's a breakdown of the test components:

1. Quantitative Measurement: The test quantitatively measures the levels of glycine in both cerebrospinal fluid (CSF) and plasma. Elevated levels of glycine in the CSF and plasma are indicative of non-ketotic hyperglycinemia.

2. Cerebrospinal Fluid (CSF) Sample: CSF is the fluid that surrounds the brain and spinal cord. Analyzing glycine levels in CSF is crucial because high levels of glycine in the CSF are a hallmark of non-ketotic hyperglycinemia.

3. Plasma Sample: Plasma is the liquid component of blood. Elevated glycine levels in plasma can also be indicative of non-ketotic hyperglycinemia.

The test is typically performed using high-precision laboratory equipment to accurately measure the concentration of glycine in both CSF and plasma samples. The results of this test can provide important diagnostic information to confirm or rule out the presence of amino acid non-ketotic hyperglycinemia.

It's important to note that NKH is a serious condition that requires medical attention and intervention. If you or someone you know is undergoing this test or has been diagnosed with NKH, it's recommended to work closely with a medical geneticist, pediatrician, or a healthcare team familiar with genetic metabolic disorders. Early diagnosis and management are crucial for optimizing outcomes for individuals with NKH.