Amino Acid Nonketotic Hyperglycinemia Panel Quantitative CSF Plasma Test
Comprehensive Diagnostic Testing for Glycine Encephalopathy
The Amino Acid Nonketotic Hyperglycinemia Panel Quantitative CSF Plasma Test represents a cutting-edge diagnostic approach for identifying nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy. This rare autosomal recessive metabolic disorder affects the glycine cleavage system, leading to toxic accumulation of glycine in body fluids, particularly in the central nervous system. The simultaneous measurement of glycine concentrations in both cerebrospinal fluid and plasma provides clinicians with essential diagnostic information that can significantly impact treatment decisions and patient management strategies.
What This Test Measures and Detects
This specialized panel employs advanced liquid chromatography-tandem mass spectrometry (LC-MS/MS) technology to precisely quantify glycine levels in:
- Cerebrospinal Fluid (CSF): Measures glycine concentration in the central nervous system environment
- Plasma: Assesses systemic glycine levels for comprehensive evaluation
- CSF/Plasma Ratio: Calculates the critical diagnostic ratio that distinguishes NKH from other conditions
The test specifically targets the biochemical markers associated with glycine encephalopathy, helping to confirm or rule out this serious metabolic disorder with high accuracy and reliability.
Who Should Consider This Test
Clinical Indications and Symptoms
This test is particularly recommended for infants and children presenting with:
- Neonatal Encephalopathy: Lethargy, poor feeding, and hypotonia in newborns
- Seizure Disorders: Intractable seizures unresponsive to conventional anticonvulsants
- Developmental Delays: Significant motor and cognitive developmental regression
- Respiratory Distress: Apnea episodes and breathing difficulties in infancy
- Family History: Known cases of NKH or unexplained infant deaths in siblings
- Atypical Neurological Presentations: Unexplained neurological deterioration in early childhood
Benefits of Taking the Nonketotic Hyperglycinemia Panel
Choosing this comprehensive diagnostic approach offers multiple advantages:
- Early Diagnosis: Enables prompt identification of NKH during critical developmental periods
- Treatment Guidance: Informs appropriate therapeutic interventions including sodium benzoate and dextromethorphan
- Prognostic Information: Helps predict disease severity and potential outcomes
- Family Planning: Provides genetic counseling information for future pregnancies
- Differential Diagnosis: Distinguishes NKH from other metabolic and neurological disorders
- Monitoring Tool: Serves as baseline for treatment response assessment
Understanding Your Test Results
Interpretation Guidelines
Test results are typically interpreted as follows:
- Elevated CSF Glycine: Levels significantly above reference range suggest NKH
- CSF/Plasma Ratio: Ratio greater than 0.08 is highly suggestive of classical NKH
- Plasma Glycine: May be elevated but less diagnostic than CSF measurements
- Clinical Correlation: Results should always be interpreted in context of clinical presentation
- Follow-up Testing: Positive results may warrant genetic confirmation and additional metabolic workup
Our genetic counselors and metabolic specialists are available to help you understand your specific results and their implications for patient care.
Test Pricing and Availability
| Test Description | Regular Price | Discount Price |
|---|---|---|
| Amino Acid Nonketotic Hyperglycinemia Panel Quantitative CSF Plasma Test | $376 USD | $226 USD |
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in:
- New York, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Our network ensures that patients and healthcare providers have access to this specialized testing regardless of location.
Sample Requirements and Processing
Collection Specifications
- CSF Sample: 1 mL minimum (0.5 mL absolute minimum) in sterile screw-capped vial
- Plasma Sample: 2 mL minimum (1 mL absolute minimum) from green top sodium heparin tube
- Shipping: Refrigerated or frozen transport required
- Timing: CSF and plasma specimens must be drawn simultaneously
- Documentation: Complete clinical details and medication history must accompany samples
Turnaround Time
We accept samples on Mondays and Wednesdays until 5:00 PM, with results typically available within 3 business days from sample receipt.
Take Action Today
Don’t delay critical diagnosis for suspected metabolic disorders. Our specialized Nonketotic Hyperglycinemia Panel provides the comprehensive analysis needed for accurate diagnosis and appropriate management. Contact our genetic testing specialists today to schedule testing or discuss your specific needs.
Call or WhatsApp: +1(267) 388-9828
Our experienced team is ready to assist you with test ordering, sample collection guidance, and result interpretation. Early diagnosis can make a significant difference in patient outcomes for this serious metabolic condition.
