Skip to main content
DNA Labs India

GLYCTK Gene D-glyceric aciduria NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GLYCTK Gene D-glyceric aciduria NGS Genetic Test

Short Name: GLYCTK Gene NGS Test

Also known as: GLYCTK Gene Mutation Analysis, D-glyceric aciduria Genetic Panel, Glycerate Kinase Deficiency NGS Test, GLYCTK Sequencing Test, Hereditary D-glyceric aciduria DNA Test

GLYCTK Gene D-glyceric aciduria 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 Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestUnisexAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the GLYCTK Gene D-glyceric aciduria NGS Genetic Test is to identify pathogenic or likely pathogenic variants in the GLYCTK gene responsible for D-glyceric aciduria. This test enables definitive molecular diagnosis in symptomatic individuals, confirmation of clinical suspicion, identification of carriers within families, and supports informed genetic counseling and reproductive planning for at-risk families.

Test Code
1968
CPT Code
81479
ICD Code
E72.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Ensure a pre-test genetic counseling session has been completed to draw a pedigree chart of family members affected with D-glyceric aciduria. Provide the clinical history of the patient going for testing. No fasting is required. Inform the lab of any recent blood transfusions or bone marrow transplants.

Method: Venipuncture

Step 2

Laboratory Analysis

A venipuncture will be performed to collect 3-5 mL of whole blood in an EDTA vacutainer. Alternatively, a single drop of blood on an FTA card or previously extracted DNA may be submitted. The collection procedure is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the venipuncture site with cotton or gauze for 3-5 minutes. Avoid heavy lifting with the affected arm for a few hours. The sample will be processed and shipped to the laboratory under controlled conditions for NGS analysis.

Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is required to draw a pedigree chart of family members affected with D-glyceric aciduria. Provide complete clinical history of the patient. No fasting is required. No special preparation is needed. Inform the laboratory of any recent blood transfusions or medical treatments.
2
During the Test:A blood sample (3-5 mL) will be collected via venipuncture into an EDTA tube. Alternatively, extracted DNA or a blood drop on an FTA card may be submitted. The procedure is quick, minimally invasive, and typically takes less than 10 minutes.
3
After the Test:Apply pressure to the puncture site for a few minutes. You can resume normal activities immediately. The sample is processed and analyzed using NGS technology. Results are typically available within 3 to 4 weeks. DNA Labs India provides raw data (FASTQ and VCF files) along with the clinical report.

About This Test

Who Should Get This Test

The purpose of the GLYCTK Gene D-glyceric aciduria NGS Genetic Test is to identify pathogenic or likely pathogenic variants in the GLYCTK gene responsible for D-glyceric aciduria. This test enables definitive molecular diagnosis in symptomatic individuals, confirmation of clinical suspicion, identification of carriers within families, and supports informed genetic counseling and reproductive planning for at-risk families.

How to Prepare

  • Pre-test genetic counseling session and pedigree chart preparation is mandatory
  • Provide complete clinical history of the patient including family history
  • Blood should be collected in an EDTA (lavender top) vacutainer
  • Sample can also be submitted as extracted DNA or blood on FTA card
  • Label the sample correctly with patient name, date, and sample ID
  • Store and transport the sample at ambient room temperature
  • Avoid hemolyzed or clotted blood samples
  • Free home sample collection is available across India for online bookings

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"D-glyceric aciduria is a rare autosomal recessive metabolic disorder that can present with a wide spectrum of severity. In my practice, I recommend GLYCTK gene testing for families with a history of unexplained metabolic acidosis, developmental delays, or consanguinity. Early molecular diagnosis through NGS allows for timely genetic counseling, informed reproductive planning, and targeted clinical management. I advise all patients to undergo pre-test genetic counseling to understand the implications of potential findings."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3-5 mL whole blood
ContainerEDTA (Lavender Top) Vacutainer or FTA Card
Collection MethodVenipuncture

Sample Stability

Whole Blood (EDTA)Stable up to 7 days at ambient room temperature (15-25°C)
Extracted DNAStable up to 6 months at -20°C
FTA CardStable for several years at ambient room temperature when stored properly
Sample Rejection Criteria:
  • Hemolyzed, clotted, or insufficient sample volume
  • Incorrectly labeled or unlabeled samples
  • Samples collected in wrong anticoagulant (heparin is not accepted)
  • Samples received after stability period has expired
  • Contaminated samples or samples showing signs of bacterial growth

Understanding Your Results

The results of the GLYCTK Gene D-glyceric aciduria NGS Genetic Test are interpreted based on the variants identified in the GLYCTK gene. Each variant is classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines into one of five categories: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, or Benign. A positive result identifying pathogenic or likely pathogenic variants in both copies of the GLYCTK gene (homozygous or compound heterozygous) confirms the diagnosis of D-glyceric aciduria. Genetic counseling is strongly recommended both before and after testing.
📊

Confirms diagnosis of D-glyceric aciduria. Clinical correlation with symptoms and biochemical findings is recommended. Genetic counseling for the family is advised.

📊

Strong evidence of association with D-glyceric aciduria. Correlation with clinical presentation and biochemical markers recommended. Confirmation through family studies may be beneficial.

📊

The clinical significance of the identified variant cannot be determined at this time. Further studies, family segregation analysis, and clinical correlation are recommended. Periodic re-evaluation is advised.

📊

The variant is unlikely to be causative for D-glyceric aciduria. Clinical correlation is recommended to rule out other causes of the patient's symptoms.

📊

No disease-causing variants in the GLYCTK gene were identified. This result does not completely exclude D-glyceric aciduria if there is strong clinical suspicion. Other genes or molecular mechanisms may be responsible.

📊

The individual is a carrier of one pathogenic variant in the GLYCTK gene. Carriers are typically unaffected but can pass the variant to offspring. Genetic counseling for family planning is recommended.

⚠️ When to Consult a Doctor:

Consult your doctor if you or your child experiences unexplained developmental delays, intellectual disability, seizures, abnormal muscle tone, metabolic acidosis, or behavioral problems. If you have a family history of D-glyceric aciduria or consanguineous parents, genetic counseling is strongly recommended. After receiving your test results, discuss the findings with your geneticist or treating physician for appropriate clinical management and family planning guidance.

Limitations

  • ⚠This test does not detect large structural rearrangements beyond the scope of NGS panel design
  • ⚠Variants of uncertain significance (VUS) may be identified and require further clinical correlation
  • ⚠Deep intronic variants and regulatory region mutations outside the targeted regions may not be detected
  • ⚠Genetic mosaicism below the detection threshold of NGS may not be identified
  • ⚠This test does not substitute for biochemical confirmation through enzyme activity assays

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site
  • ●Very rare risk of infection at the blood draw site
  • ●Psychological impact of receiving genetic diagnosis or carrier status information
  • ●Identification of variants of uncertain significance (VUS) may cause anxiety without providing definitive answers

Interfering Factors

  • ●Degraded or insufficient DNA quality may affect sequencing results
  • ●Recent blood transfusion within 4 weeks may impact variant detection
  • ●Contamination during sample collection or transport
  • ●Presence of pseudogenes or homologous regions may require confirmatory testing

Compare With Similar Tests

TestGLYCTK Gene D-glyceric aciduria NGS Genetic TestUrine Organic Acids AnalysisSanger SequencingWhole Exome Sequencing (WES)Enzyme Activity Assay
ComparisonGLYCTK Gene D-glyceric aciduria NGS Genetic Test

Frequently Asked Questions

What is GLYCTK Gene D-glyceric aciduria?
D-glyceric aciduria is a rare autosomal recessive inherited metabolic disorder caused by mutations in the GLYCTK gene. This gene encodes the enzyme glycerate kinase, which is essential for the proper metabolism of D-glyceric acid. When the GLYCTK gene is mutated, the enzyme is deficient or absent, leading to accumulation of D-glyceric acid in the body, which can cause a range of symptoms including developmental delay, intellectual disability, seizures, and abnormal muscle tone.
Who should get the GLYCTK Gene D-glyceric aciduria NGS Genetic Test?
This test is recommended for individuals presenting with unexplained developmental delay, intellectual disability, seizures, abnormal muscle tone, metabolic acidosis, or elevated D-glyceric acid in urine organic acid analysis. It is also recommended for individuals with a family history of D-glyceric aciduria or those from consanguineous families. Carrier testing for family members of affected individuals is also available.
What sample is required for this genetic test?
The test can be performed using a blood sample (3-5 mL collected in an EDTA vacutainer), extracted DNA, or a single drop of blood on an FTA card. No fasting is required before sample collection. Free home sample collection is available across India for online bookings.
How does NGS technology work for this test?
Next-Generation Sequencing (NGS) is an advanced genetic testing technology that can analyze large regions of DNA simultaneously with high accuracy. For this test, NGS is used to sequence the entire coding region of the GLYCTK gene, identifying point mutations, small insertions, deletions, and other genetic variants. NGS is more comprehensive and efficient than traditional Sanger sequencing for detecting multiple types of variants.
How long does it take to get the results?
Results for the GLYCTK Gene D-glyceric aciduria NGS Genetic Test are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results can be accessed through the online portal, email, or WhatsApp.
What is the cost of the GLYCTK Gene D-glyceric aciduria NGS Genetic Test?
The cost of the GLYCTK Gene D-glyceric aciduria NGS Genetic Test at DNA Labs India is Rs 20000.0. This cost includes NGS testing, clinical interpretation, raw data files (FASTQ and VCF), and free home sample collection across India. The cost may vary at other laboratories. Consult with your insurance provider regarding coverage for genetic testing.
What does a positive test result mean?
A positive result means that pathogenic or likely pathogenic variants have been identified in the GLYCTK gene. If variants are found in both copies of the gene (homozygous or compound heterozygous), this confirms the diagnosis of D-glyceric aciduria. A genetic counselor or your treating physician will help you understand the implications of the results, discuss management options, and guide family planning decisions.
Can D-glyceric aciduria be treated or managed?
Currently, there is no specific cure for D-glyceric aciduria. Management focuses on supportive care, including dietary modifications to reduce D-glyceric acid accumulation, seizure management with appropriate medications, developmental support and therapies, and regular monitoring by a metabolic specialist. Early diagnosis through genetic testing allows for timely intervention and better clinical outcomes.
Is genetic counseling recommended before and after this test?
Yes, genetic counseling is strongly recommended both before and after the GLYCTK Gene test. Pre-test counseling helps you understand the test purpose, implications, possible outcomes, and includes drawing a pedigree chart of affected family members. Post-test counseling helps interpret the results, discuss management options, carrier status, recurrence risk for future pregnancies, and available support resources.
Will I receive the raw genetic data along with the test report?
Yes. DNA Labs India is the only laboratory that transparently provides raw data files, including FASTQ and VCF files, along with the conclusive clinical test report. This allows you or your genetic counselor to review the sequencing data independently or use it for future reanalysis as new research becomes available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the GLYCTK Gene D-glyceric aciduria NGS Genetic Test when booked online. This service is available across numerous cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more. A trained phlebotomist will visit your location to collect the blood sample at your convenience.
Is the GLYCTK Gene D-glyceric aciduria NGS Genetic Test covered by insurance in India?
Genetic testing is generally not covered by most insurance plans in India, including government schemes like PMJAY, CGHS, ECHS, and ESIC. However, coverage policies vary by insurer and plan. We recommend contacting your insurance provider directly to inquire about pre-authorization and reimbursement for genetic tests. DNA Labs India can provide all necessary documentation for insurance claims.
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.

Related Tests

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.