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DNA Labs India

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

DNA Labs India | ISO 9001:2015 Certified

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

Also known as: NKH Quantitative Panel, Glycine Encephalopathy Test

Amino Acid Non-Ketotic Hyperglycinemia Panel Quantitative CSF & Plasma Test test available at DNA Labs India for ₹9,000. Uses LC-MS/MS on CSF and Plasma samples. Results in Reports available within 3 days from sample receipt, delivered via online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.

Quantitative AnalysisPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Non-Ketotic Hyperglycinemia by quantitatively measuring glycine levels in cerebrospinal fluid and plasma, aiding in early detection and management of this genetic metabolic disorder.

Test Code
93
Price
₹9,000
Sample Type
CSF and Plasma
Result Time
Reports available within 3 days from sample receipt, delivered via online portal, email, or WhatsApp.
Fasting Required
No
Method
LC-MS/MS
Step 1

Sample Collection

Provide clinical details and drug history. No specific fasting required, but samples should be drawn simultaneously.

Method: Lumbar puncture for CSF; venipuncture for plasma

Step 2

Laboratory Analysis

CSF collected via lumbar puncture by a healthcare professional; plasma via venipuncture. Ensure proper labeling and sterile handling.

Step 3

Report Delivery

Transfer plasma to sterile screw-capped vial. Ship samples refrigerated (2-8°C) or frozen (-20°C) as per stability guidelines.

Timeline: Reports available within 3 days from sample receipt, delivered via online portal, email, or WhatsApp.

Patient Instructions

1
Before the Test:No special preparation required, but provide clinical history to the lab.
2
During the Test:Sample collection via lumbar puncture and venipuncture; pain or discomfort may occur during procedures.
3
After the Test:Mild soreness at collection sites; apply pressure to prevent bruising. Results will be available after 3 days.

About This Test

Who Should Get This Test

To diagnose Non-Ketotic Hyperglycinemia by quantitatively measuring glycine levels in cerebrospinal fluid and plasma, aiding in early detection and management of this genetic metabolic disorder.

How to Prepare

  • Accompany sample with clinical details and drug history
  • Collect CSF and plasma specimens at the same time
  • Transfer plasma to a sterile screw-capped vial
  • Ship refrigerated or frozen to maintain sample integrity

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early diagnosis through this test is vital for families with a history of genetic disorders, aiding in prenatal counseling and neonatal management of NKH."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeCSF and Plasma
Sample Volume1 mL CSF (0.5 mL min.) and 2 mL Plasma (1 mL min.)
ContainerSterile screw-capped vial for CSF; Green Top (Sodium Heparin) tube for plasma, then transfer to sterile vial
Collection MethodLumbar puncture for CSF; venipuncture for plasma

Sample Stability

Room Temperature
Refrigerator (2-8°C)
Frozen (-20°C)
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled containers
  • Samples not shipped under specified conditions

Understanding Your Results

Results from this test indicate glycine levels in CSF and plasma. Elevated glycine concentrations in both samples are characteristic of Non-Ketotic Hyperglycinemia.
📊

Strongly suggestive of Non-Ketotic Hyperglycinemia; correlate with clinical symptoms and genetic testing

📊

NKHA is less likely; consider other metabolic disorders

📊

May require repeat testing or additional diagnostics

⚠️ When to Consult a Doctor:

Consult a healthcare provider if you or your child exhibits symptoms like seizures, hypotonia, poor feeding, or developmental delays, or if test results are abnormal. Early medical intervention is crucial for NKH management.

Limitations

  • ⚠Cannot differentiate between primary and secondary hyperglycinemia
  • ⚠Does not detect carrier status for NKH genes
  • ⚠Results should be correlated with clinical presentation

Risks & Considerations

  • ●Lumbar puncture risks: headache, infection, bleeding, or nerve damage
  • ●Venipuncture risks: bruising, discomfort, or fainting
  • ●General: anxiety related to test procedures

Interfering Factors

  • ●Hemolyzed samples
  • ●Lipemic samples
  • ●Recent high-protein diet

Frequently Asked Questions

What is Non-Ketotic Hyperglycinemia (NKH)?
NKH is a rare genetic disorder that impairs the breakdown of glycine, leading to its accumulation and causing neurological symptoms like seizures and developmental delays.
Who should take this test?
Infants or children with symptoms such as seizures, low muscle tone, poor feeding, or developmental delays, or those with a family history of NKH.
What samples are required for the test?
The test requires 1 mL of cerebrospinal fluid (CSF) collected via lumbar puncture and 2 mL of plasma from a blood sample, drawn simultaneously.
Is fasting required before the test?
No fasting is required, but clinical details and drug history must accompany the samples.
How is the test performed?
The test uses LC-MS/MS technology to quantitatively measure glycine levels in CSF and plasma samples.
What is the cost of the test?
The test costs INR 9000 at DNA Labs India, with free home sample collection available in many cities across India.
How long does it take to get results?
Results are typically available within 3 days from sample collection, delivered via online portal, email, or WhatsApp.
What do elevated glycine levels indicate?
Elevated glycine levels in both CSF and plasma are indicative of Non-Ketotic Hyperglycinemia, but results should be interpreted by a healthcare professional.
Can NKH be treated?
While there is no cure, early diagnosis and management with medications and supportive care can help control symptoms and improve quality of life.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in cities across India, including Mumbai, Delhi, Bangalore, and more.
What are the risks of the test?
Risks are associated with sample collection: lumbar puncture may cause headache or infection, and venipuncture may lead to bruising or discomfort.
Is this test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY, but private insurance may cover it. Check with your insurer for details.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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