GCSH Gene Glycine encephalopathy NGS Genetic Test
Short Name: GCSH Glycine Encephalopathy NGS
Also known as: GCSH Gene Glycine Encephalopathy NGS Genetic Test Cost, Nonketotic Hyperglycinemia NGS Test, Glycine Encephalopathy GCSH Gene Sequencing
GCSH Gene Glycine encephalopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic variants in the GCSH gene to confirm or rule out glycine encephalopathy. It helps guide clinical management, family counselling, and recurrence-risk assessment.
- Test Code
- 4105
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A genetic counselling session may be scheduled before the test to review family history and discuss the purpose of testing.
Method: Blood draw or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample from a vein in your arm. Alternatively, a few drops of blood may be placed on an FTA card.
Report Delivery
You may resume normal activities immediately. The laboratory will process the sample and share the report in 3 to 4 weeks.
Timeline: Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the GCSH gene to confirm or rule out glycine encephalopathy. It helps guide clinical management, family counselling, and recurrence-risk assessment.
How to Prepare
- No fasting required
- Blood can be collected in a blood collection tube
- FTA card can be used with one drop of blood
- The sample must be clearly labelled with the patient's name and other required details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The test result should always be interpreted with clinical history and biochemical findings. For families with a confirmed GCSH variant, genetic counselling can help explain recurrence risk and reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Inappropriate sample container
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Mislabeled or unlabelled sample
Understanding Your Results
Positive - Pathogenic variant detected
Indicates a molecular diagnosis of GCSH-associated glycine encephalopathy.
Negative - No pathogenic variant detected
Reduces but does not exclude the possibility of glycine encephalopathy. Further clinical and biochemical correlation is required.
Variant of uncertain significance (VUS)
Cannot confirm or exclude the diagnosis. Additional family studies and further evaluation may be recommended.
Consult a neurologist or clinical geneticist if the test result is positive, if a VUS is reported, or if symptoms such as seizures, hypotonia, poor feeding, or developmental delay persist despite a negative result.
Limitations
- ⚠NGS may not detect all types of genetic changes such as large structural variants, repeat expansions, or deep intronic variants
- ⚠A negative result does not exclude all causes of glycine encephalopathy
- ⚠Variants of uncertain significance may require additional familial testing
- ⚠Clinical correlation with neurological and biochemical findings is essential
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the blood collection site
- ●Mild discomfort during venipuncture
Interfering Factors
- ●Insufficient or degraded DNA
- ●Sample contamination
- ●Incorrect sample storage
- ●Maternal cell contamination in samples collected from young infants
Frequently Asked Questions
What is the price of the GCSH Gene Glycine Encephalopathy NGS Genetic Test?
What sample is needed for this test?
Is fasting required before the test?
How long will the reports take?
Will I receive raw data files?
What is NGS genetic testing?
Who should take this test?
Is genetic counselling recommended before this test?
Can this test be done for a newborn?
Is home sample collection available?
Does insurance cover this test?
What does a negative result mean?
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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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