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Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel
₹ 19400
Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel
₹ 19400 ₹ 19400

Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Glycine encephalopathy Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To detect genetic mutations causing glycine encephalopathy and support diagnosis, management, and family screening

What is the Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel?

The Nonketotic Hyperglycinemia or Glycine Encephalopathy Panel is a genetic blood test used to identify inherited conditions that cause excessive levels of glycine in the brain. Glycine encephalopathy is a rare metabolic disorder that primarily affects the central nervous system and often presents in early infancy or childhood.

This test analyses key genes involved in glycine breakdown using Next Generation Sequencing technology. It requires an EDTA blood sample and helps doctors confirm a genetic diagnosis, guide treatment planning, and assess risk for other family members.

What Does the Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Measure?

This genetic test evaluates gene changes linked to glycine metabolism and neurological function:

  • Detection of gene mutations responsible for impaired glycine breakdown
  • Confirmation of nonketotic hyperglycinemia as the cause of neurological symptoms
  • Differentiation from other metabolic or neurodevelopmental disorders
  • Support for seizure management and neurodevelopmental care planning
  • Guidance for genetic counselling, family screening, and prenatal evaluation

Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel?

Doctors may recommend this test if you or your child shows symptoms such as:

  • Severe or recurrent seizures beginning in infancy
  • Poor feeding, vomiting, or breathing difficulties in newborns
  • Low muscle tone or poor head control
  • Developmental delay or loss of developmental milestones
  • Episodes of lethargy, altered consciousness, or coma

Who Should Get a Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel?

  • Newborns or infants with unexplained seizures or encephalopathy
  • Children with developmental delay and suspected metabolic disorders
  • Individuals with biochemical findings suggestive of elevated glycine
  • Patients with a family history of glycine encephalopathy
  • Couples planning a pregnancy with known genetic risk

Why is a Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Done?

The test helps identify the genetic cause of glycine encephalopathy, enabling early diagnosis, appropriate management, and informed family planning decisions.

Importance of the Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel

Early diagnosis of glycine encephalopathy is critical, as delayed treatment can lead to severe neurological damage. This gene panel allows precise identification of the underlying genetic defect, helping your doctor plan seizure control strategies, supportive therapies, and long term care. It also provides valuable information for prognosis and reduces uncertainty for affected families.

Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Booking & Reports – Metropolis Healthcare

How to Book the Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
  2. Safe Home Sample Collection
    Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
  3. Sample Tracking Updates
    You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
  4. Accurate Laboratory Testing
    Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
  5. Quick and Easy Reports
    Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.

How Long Does It Take to Get a Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Report?

Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Results?

  1. Metropolis Healthcare website or mobile app
    You can access your test results through the Metropolis Healthcare website or mobile app using your login details.
  2. Email or WhatsApp
    Reports are also shared via email or WhatsApp.
  3. Physical copy from the lab
    You may collect a physical copy directly from the Metropolis Lab if required.

Interpreting Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Results

What Your Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
Glycine encephalopathy related genes No disease causing variant detected Nonketotic hyperglycinemia affecting brain glycine levels Symptoms may be due to other metabolic or neurological conditions

Understanding Abnormal Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Test Results

Gene Group What a Pathogenic Variant May Indicate
AMT and GLDC Classic glycine encephalopathy with impaired glycine cleavage
GCSH Disruption of the glycine cleavage system
SLC6A9 Defective glycine transport affecting neurotransmission

How Should You Prepare for a Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel?

This genetic test requires minimal preparation. Please follow these simple steps:

  • No fasting required: You can eat and drink normally unless advised otherwise by your doctor
  • Normal hydration: Continue your usual fluid intake
  • Medication information: Inform your doctor about all medicines or supplements you are taking
  • Clinical history: Share relevant medical and family history for accurate interpretation
  • Consent and forms: Ensure the test requisition form and genetic history details are completed

How Is a Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Done? (Step-by-Step Procedure)

The test is performed using a simple blood collection process:

  • Preparation: A tourniquet is tied around your arm to make veins more visible.
  • Cleaning: The puncture site is cleaned with antiseptic.
  • Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer.
  • Completion: The needle is removed, and a bandage is applied.
  • Processing: The sample is analysed using Next Generation Sequencing to identify gene mutations linked to glycine encephalopathy.

Conditions That May Affect Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Accuracy

Certain patient related factors may influence test interpretation:

  • Recent blood transfusion may affect genetic analysis
  • Incomplete or incorrect clinical history can limit interpretation
  • Mosaic genetic changes may be harder to detect in some individuals
  • Variants of uncertain significance may require further family testing

Diseases That a Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Can Help Detect

  • Nonketotic hyperglycinemia
  • Glycine encephalopathy
  • Disorders of glycine metabolism
  • Inherited metabolic encephalopathies

References

  1. Kure S., Kato K., Dinopoulos A., et al. (2006). Comprehensive molecular analysis of glycine encephalopathy. Human Mutation, 27(10), 1038–1044. PMID: 16917941
  2. Hamosh A., Johnston M.V. (2001). Nonketotic hyperglycinemia. Journal of Inherited Metabolic Disease, 24(2), 245–255. PMID: 11405392
  3. Applegarth D.A., Toone J.R., Lowry R.B. (2000). Incidence of inborn errors of metabolism in British Columbia. Pediatrics, 105(1), e10. PMID: 10617749

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Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

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Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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