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GPT2 Gene Mental retardation, autosomal recessive type 49 NGS Genetic Test

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GPT2 Gene Mental retardation, autosomal recessive type 49 NGS Genetic Test

Short Name: GPT2 Gene MRT49 NGS Test

Also known as: MRT49, GPT2-related intellectual disability, Autosomal recessive intellectual disability 49

GPT2 Gene Mental retardation, autosomal recessive type 49 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing validation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The GPT2 gene NGS genetic test report is generally available in 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestChildren and Adults🏠 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

The purpose of this GPT2 gene NGS genetic test is to identify pathogenic or likely pathogenic variants in the GPT2 gene that are associated with Mental Retardation, Autosomal Recessive Type 49. The test helps confirm a clinical diagnosis, provides accurate genetic information for family counselling, and supports recurrence risk assessment for parents and relatives.

Test Code
4271
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The GPT2 gene NGS genetic test report is generally available in 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing validation
Step 1

Sample Collection

No fasting is required. Please carry the clinical history, neurological evaluation notes, previous genetic reports and family pedigree if available. A genetic counselling session is recommended before testing.

Method: Peripheral blood draw or finger-prick FTA card sample collection

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small amount of venous blood in an EDTA tube. Alternatively, a finger-prick blood spot can be applied on the FTA card for home collection.

Step 3

Report Delivery

The sample will be transported to the laboratory in a temperature-appropriate pack. You will receive updates on sample receipt, processing and report delivery. The final report is generally issued in 3 to 4 weeks.

Timeline: The GPT2 gene NGS genetic test report is generally available in 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. Patients should provide relevant clinical history, prior medications, neurological findings and family pedigree. A genetic counselling session may be scheduled before testing.
2
During the Test:The test involves only a routine blood sample collection or FTA card blood spot. No sedation or invasive procedure is required.
3
After the Test:After sample collection, the specimen is sent to the laboratory. The patient will receive the final report in 3 to 4 weeks with an interpretive summary.

About This Test

Who Should Get This Test

The purpose of this GPT2 gene NGS genetic test is to identify pathogenic or likely pathogenic variants in the GPT2 gene that are associated with Mental Retardation, Autosomal Recessive Type 49. The test helps confirm a clinical diagnosis, provides accurate genetic information for family counselling, and supports recurrence risk assessment for parents and relatives.

How to Prepare

  • EDTA blood should be mixed gently by inverting the tube several times.
  • FTA card should be air-dried completely and placed in the provided envelope.
  • Do not freeze whole blood.
  • Label the sample with the patient's name, date of birth and collection date.

Doctor's Notes

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

"GPT2 gene testing is valuable when a child has unexplained developmental delay, intellectual disability, seizures or behavioural problems. A molecular diagnosis allows accurate recurrence risk counselling and helps families make informed decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 ml EDTA blood / 1-2 FTA blood spots / 2-5 mcg extracted DNA
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodPeripheral blood draw or finger-prick FTA card sample collection

Sample Stability

Whole blood in EDTA: stable at 2-8 degrees Celsius for up to 72 hours
FTA dried blood spot: stable at ambient temperature for transport
Extracted DNA: stable at -20 degrees Celsius for long-term storage
Sample Rejection Criteria:
  • Clotted blood sample if EDTA tube was required
  • Unlabelled or mislabelled sample
  • Sample received in a broken or leaking container
  • Insufficient sample quantity
  • Wet or contaminated FTA card

Understanding Your Results

The GPT2 gene NGS report identifies sequence variants and classifies them according to international ACMG/AMP guidelines. Results should always be interpreted by a clinical geneticist or neurologist in the context of the patient's symptoms, family history and other investigations.
Positive result: Detection of two pathogenic or likely pathogenic GPT2 variants in trans confirms the diagnosis of MRT49.
Negative result: No clinically significant variants were identified in GPT2. Broader genetic testing may be considered.
Carrier result: Detection of a single pathogenic GPT2 variant in an unaffected individual is consistent with carrier status.
VUS result: A variant of uncertain significance is not sufficient for diagnosis; additional family testing may help reclassify the variant.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if a child has unexplained developmental delay, intellectual disability, seizures, speech delay or behavioural regression. Early genetic diagnosis can guide management and family planning.

Limitations

  • ⚠Standard NGS may not detect large structural rearrangements, copy number changes, deep intronic variants or repeat expansions unless specifically analysed.
  • ⚠A negative GPT2 gene result does not exclude other genetic or non-genetic causes of intellectual disability.
  • ⚠A variant of uncertain significance should not be used for prenatal or predictive testing unless family segregation studies provide additional information.

Risks & Considerations

  • ●Minimal pain or bruising at the venipuncture site
  • ●Very small risk of infection during blood collection
  • ●Anxiety or vasovagal response in some patients

Interfering Factors

  • ●Haemolysed, clotted or inadequate blood sample
  • ●Insufficient DNA quantity or poor DNA quality
  • ●Sample contamination with another person's DNA
  • ●Recent allogeneic bone marrow transplant may affect blood-derived DNA analysis

Compare With Similar Tests

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Frequently Asked Questions

What is the GPT2 gene MRT49 NGS genetic test?
This is a targeted next-generation sequencing test that reads the coding and flanking splice-site regions of the GPT2 gene. It is used to detect pathogenic variants that can cause Mental Retardation, Autosomal Recessive Type 49 (MRT49), a rare inherited form of intellectual disability.
What condition is caused by GPT2 gene mutations?
Mutations in the GPT2 gene can cause Mental Retardation, Autosomal Recessive Type 49 (MRT49). Clinically it is often described as autosomal recessive intellectual disability-49 and can present with motor delay, moderate to severe intellectual disability, speech delay, seizures and behavioural issues.
How is MRT49 inherited?
MRT49 follows autosomal recessive inheritance. A child must inherit a pathogenic GPT2 variant from both parents. Usually both parents are unaffected carriers. With every pregnancy, carrier parents have a 25% chance of having an affected child.
What sample is required for this NGS genetic test?
The test can be done on whole blood in an EDTA tube, isolated DNA, or one drop of blood applied on an FTA card. At DNA Labs India, free home sample collection is available for online bookings.
Is fasting required for the GPT2 gene test?
No. Fasting is not required. The test can be performed at any time of day. However, you should carry any previous medical reports, prescription and family history details for genetic counselling.
How long will the GPT2 gene NGS report take?
The report is generally issued within 3 to 4 weeks because next-generation sequencing, data analysis and variant confirmation require time.
What is the price of the GPT2 gene mental retardation type 49 NGS genetic test in India?
The special discounted price of this test is Rs 20,000, and free home sample collection is included. DNA Labs India also shares raw data, FASTQ and VCF files with the final clinical report.
Who should be tested for GPT2 gene-related intellectual disability?
Testing is considered for children or adults with unexplained global developmental delay, intellectual disability, speech delay, seizures or autism-like features, especially when a GPT2-related disorder is suspected by a neurologist or clinical geneticist. Carrier testing can be offered to at-risk family members if familial variants are known.
What do positive, negative and VUS results mean?
A positive result means a pathogenic or likely pathogenic variant was found; if two such variants are present, it confirms the diagnosis. A negative result means no clinically significant variant was found in GPT2. A VUS is a variant of uncertain significance and requires additional family testing or functional evidence before clinical use.
Why should I ask for raw data, FASTQ and VCF files?
Raw data files allow independent reanalysis, future reinterpretation when knowledge changes, and verification of the clinical report. DNA Labs India is transparent and provides raw data, FASTQ and VCF files along with the conclusive clinical report for this test.
Can this test detect all inherited causes of intellectual disability?
No. This test is limited to the GPT2 gene. Intellectual disability can be caused by many genetic and non-genetic conditions. If the GPT2 test is negative, broader tests such as a multi-gene intellectual disability NGS panel or whole exome sequencing may be recommended.
Do I need genetic counselling before or after the test?
Yes. Genetic counselling is recommended before testing to draw a three-generation pedigree and discuss recurrence risk, and after testing to explain the implications of the result for the patient and family. The DNA Labs India team supports patients through this process.
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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