The Amino Acid Nonketotic Hyperglycinemia Panel Quantitative CSF Plasma Test is essential for diagnosing inborn errors of metabolism. Priced at 18000 KSh, this test measures glycine levels in cerebrospinal fluid and plasma, aiding in the detection of metabolic disorders. It is crucial for patients exhibiting symptoms of hyperglycinemia or related metabolic issues.
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Genetic Testing
Genetic Testing
Amino Acid Nonketotic Hyperglycinemia Panel Quantitative CSF Plasma Test
KSh 24,000.00
KSh 30,000.00
-20%
The Amino Acid Nonketotic Hyperglycinemia Panel Quantitative CSF Plasma Test is essential for diagnosing inborn errors of metabolism. Priced at 18000 KSh, this test measures glycine levels in cerebrospinal fluid and plasma, aiding in the detection of metabolic disorders. It is cr...
What Is the Amino Acid Nonketotic Hyperglycinemia Panel Quantitative CSF Plasma Test?
The Amino Acid Nonketotic Hyperglycinemia Panel Quantitative CSF Plasma Test is a vital diagnostic tool used to assess levels of glycine in cerebrospinal fluid (CSF) and plasma. This test is particularly important for identifying inborn errors of metabolism, specifically hyperglycinemia, which can lead to severe neurological issues if not diagnosed and managed promptly.
- Sample Type: 1 mL (0.5 mL min.) CSF in a sterile screw-capped vial and 2 mL (1 mL min.) plasma from 1 Green Top (Sodium Heparin) tube. Transfer plasma into a sterile screw-capped vial. Ship refrigerated or frozen.
- Turnaround Time: Sample must be submitted by Mon/Wed by 5 PM; Report available in 3 days.
- Pre-test Instructions: Clinical details and drug history must accompany the sample. CSF and Plasma specimens should be drawn at the same time.
Who Should Consider This Test?
Individuals exhibiting symptoms such as:
- Severe neurological impairment
- Unexplained developmental delays
- Seizures
- Hypotonia (decreased muscle tone)
- Family history of metabolic disorders
should consider undergoing this test. It is particularly recommended for pediatric patients, as they are more susceptible to metabolic disorders.
What Does the Test Detect or Measure?
This test quantitatively measures the concentration of glycine in both CSF and plasma samples. Elevated levels of glycine can indicate a metabolic disorder that requires immediate medical attention.
What the Results May Show
Results from the Amino Acid Nonketotic Hyperglycinemia Panel will indicate the levels of glycine present in the samples. A healthcare provider will interpret these results, considering the clinical details and drug history provided with the samples. Elevated levels may necessitate further testing or immediate intervention.
Benefits or Clinical Value
- Early detection of hyperglycinemia and related disorders.
- Guides treatment options and management strategies for affected individuals.
- Informs family planning for those with a history of metabolic diseases.
- Provides peace of mind through accurate diagnosis.
Pricing
| Test Name | Current Price | Regular Price |
|---|---|---|
| Amino Acid Nonketotic Hyperglycinemia Panel Quantitative CSF Plasma Test | KSh 24,000.00 | KSh 30,000.00 |