Amino Acid Non-Ketotic Hyperglycinemia Panel Quantitative CSF & Plasma Test in UAE

Executive Summary & Core Metrics

Key Performance Indicators

Diagnostic Accuracy: 99.9% Sensitivity via ISO 9001:2015 Accredited LC-MS/MS Processing (Gold Standard Methodology).
Clinical Setting: Hospital Extraction Only – Sample collection is conducted strictly within an accredited hospital facility; mobile home phlebotomy is disabled for safety.
Expert Guidance: Post-Test Genetic Counseling by Consultant Medical Genetics specialist with DHA-licensed oversight.
Insurance Verification: Direct Billing Support via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This quantitative panel employs Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) to measure glycine concentrations in cerebrospinal fluid and plasma simultaneously, delivering the gold-standard biomarker profile for diagnosing non-ketotic hyperglycinemia (NKH). NKH is a severe neonatal metabolic disorder caused by defective glycine cleavage enzyme activity, leading to glycine accumulation in the central nervous system. Early, precise detection through this panel enables timely intervention, dietary management, anti-epileptic therapy, and informed genetic counseling for family planning.

Feature	DNA Labs UAE – This Test	Alternative Centres
Methodology	LC-MS/MS (Clinical Gold Standard)	HPLC (Older, Reduced Sensitivity)
Turnaround Time	3 Working Days	7–10 Working Days
Specimen Collection	Simultaneous CSF + Plasma; Hospital Extraction Only	Often separate draws; Limited hospital coordination

Physician Insight & Safety Protocols

“The quantitative CSF-to-plasma glycine ratio remains the definitive biochemical hallmark for diagnosing non-ketotic hyperglycinemia, offering greater than 99% sensitivity when measured by LC-MS/MS. However, results must always be correlated with clinical symptomatology, including neonatal hypotonia, seizures, and apnea, as well as confirmatory genetic testing for GLDC, AMT, or GCSH variants. Early diagnosis and multidisciplinary care significantly improve neurodevelopmental outcomes. I strongly recommend families engage with a metabolic specialist and genetic counselor before and after testing.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403

Safety Advisory – Important Clinical Precautions

Patient Safety Notice

Do not discontinue, adjust, or modify any prescribed antiepileptic or metabolic therapy without explicit instruction from your treating physician. Abrupt cessation of medications may precipitate severe seizures or metabolic decompensation.

All lumbar puncture procedures are performed exclusively within accredited hospital facilities by qualified anaesthesiology and neurology teams. Strict aseptic technique and continuous vital sign monitoring are mandated throughout the collection process.

Exclusion Criteria & Emergency Red Flags

Contraindications for Lumbar Puncture

Suspected increased intracranial pressure with papilledema on fundoscopy
Coagulopathy or thrombocytopenia (platelet count below 50,000/µL)
Local infection, cellulitis, or abscess at the proposed puncture site
Hemodynamic instability or uncorrected respiratory compromise

Emergency Warning Signs – Seek Immediate Medical Care

Recurrent seizures or myoclonic jerks in the neonatal period
Apneic episodes or progressive respiratory depression
Persistent vomiting accompanied by altered consciousness
Severe hypotonia progressing to opisthotonus posture

Patient FAQ & Clinical Guidance

1. What is non-ketotic hyperglycinemia and how is this test used for diagnosis?

Answer: Non-ketotic hyperglycinemia is a rare autosomal recessive disorder caused by mutations in the glycine cleavage system genes (GLDC, AMT, GCSH), leading to toxic glycine accumulation in the brain. This panel measures glycine quantitatively in both CSF and plasma using LC-MS/MS, calculating the CSF-to-plasma ratio. A ratio above 0.08 combined with elevated CSF glycine confirms NKH, distinguishing it from ketotic hyperglycinemias and other neonatal seizure syndromes. The test guides dietary restriction therapy, sodium benzoate administration, and anticonvulsant selection.

2. How should my infant be prepared for CSF and blood collection?

Answer: Preparation requires a supervised fast of four hours prior to simultaneous lumbar puncture and venipuncture. All antiepileptic medications should be continued unless explicitly directed otherwise by your paediatric neurologist. Provide a complete drug history including dosages and timing. The procedure is performed under local anaesthesia with or without mild sedation in a hospital setting by experienced clinicians. Continuous monitoring of heart rate, oxygen saturation, and respiratory effort is maintained throughout.

3. What do the test results indicate and what are the expected reference ranges?

Answer: Normal CSF glycine is below 10 µmol/L with a CSF-to-plasma glycine ratio below 0.08. In classic NKH, CSF glycine typically ranges from 10 to 50 µmol/L or higher, and the ratio exceeds 0.08. Mild or attenuated forms may show less pronounced elevations. Results are interpreted in conjunction with newborn screening data, brain MRI findings, and molecular genetic testing of the glycine cleavage pathway genes. Follow-up may include repeat CSF analysis and plasma amino acid monitoring to assess therapeutic response.

4. What genetic counselling services are available after diagnosis?

Answer: Families receive comprehensive post-test genetic counselling conducted by our Consultant Medical Genetics specialist, Lina Osama Zaki Quteineh. This includes detailed discussion of inheritance patterns, recurrence risks in future pregnancies, prenatal testing options, carrier screening for relatives, and coordination with paediatric metabolic specialists. A written genetic counselling summary is provided for your medical records.

UAE Regulatory & Data Privacy Adherence

Regulatory Compliance & Data Protection Framework

Data Privacy: All patient health information is processed, stored, and transmitted in strict compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring data minimization, purpose limitation, and robust security controls.
Health ICT Governance: Laboratory information systems and digital health records adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, guaranteeing interoperability, confidentiality, and audit integrity.
Clinical Safety & Consent: All specimen collection procedures and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed consent, procedural safety, and clinical accountability.
Accreditation: ISO 9001:2015 Quality Management System certified laboratory processing ensures consistent diagnostic excellence.

Clinical & Logistical Metadata

Test Name	Amino Acid Non-Ketotic Hyperglycinemia Panel – Quantitative CSF & Plasma
Price (AED)	1,500 AED
Turnaround Time	3 Working Days
Sample Type / Matrix	Cerebrospinal Fluid (CSF) and EDTA Plasma – Simultaneous Collection Required; Hospital Extraction Only
Methodology Used	Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
ICD-10-CM Code	E72.51
LOINC Code	23673-3 (Glycine [Moles/volume] in Cerebral spinal fluid)
DHA Facility License & Laboratory Address Invariants	DHA Facility License Number: 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| Operated by DNA Labs UAE