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NSUN2 Gene Mental retardation, autosomal recessive type 5 NGS Genetic Test

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NSUN2 Gene Mental retardation, autosomal recessive type 5 NGS Genetic Test

Short Name: NSUN2 Gene NGS

Also known as: NSUN2 gene sequencing test, MRT5 genetic test, NSUN2 NGS test for intellectual disability, Autosomal recessive mental retardation type 5 genetic test

NSUN2 Gene Mental retardation, autosomal recessive type 5 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 generally available within 3 to 4 weeks after the sample is received. Additional time may be required if variant confirmation by an alternative method is necessary.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The primary purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the NSUN2 gene in individuals with clinical features suggestive of NSUN2-associated autosomal recessive intellectual disability type 5. The test is also useful for carrier testing in at-risk family members when a pathogenic NSUN2 variant has already been identified in the family. NGS allows targeted analysis of the NSUN2 gene and provides information that can be correlated with clinical findings for diagnosis, prognosis, and reproductive risk counselling.

Test Code
4273
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample is received. Additional time may be required if variant confirmation by an alternative method is necessary.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. Please carry a valid government ID and any previous medical, developmental, or genetic reports. A genetic counselling session is recommended to document family history and draw a pedigree chart of family members affected with NSUN2-related intellectual disability.

Method: Peripheral blood draw / dried blood spot on FTA card / submitted extracted DNA

Step 2

Laboratory Analysis

A trained phlebotomist will collect venous blood. If an FTA card is being used, one drop of blood is applied to the card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be transported to the DNA Labs India facility for NGS analysis. The clinical report will usually be available within 3 to 4 weeks.

Timeline: Reports are generally available within 3 to 4 weeks after the sample is received. Additional time may be required if variant confirmation by an alternative method is necessary.

Patient Instructions

1
Before the Test:No fasting is required. Please bring previous medical records, developmental assessment reports, and a referral if available. Genetic counselling is advised before the test to review inheritance, benefits, risks, and limitations.
2
During the Test:The laboratory will receive a blood, FTA card, or extracted DNA sample. NGS is performed using standard quality-controlled protocols. No anaesthesia or sedation is required.
3
After the Test:Share the report with the referring doctor or a clinical geneticist. The result will explain whether a pathogenic NSUN2 variant was identified, uncertain variant was found, or no disease-causing variant was detected.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the NSUN2 gene in individuals with clinical features suggestive of NSUN2-associated autosomal recessive intellectual disability type 5. The test is also useful for carrier testing in at-risk family members when a pathogenic NSUN2 variant has already been identified in the family. NGS allows targeted analysis of the NSUN2 gene and provides information that can be correlated with clinical findings for diagnosis, prognosis, and reproductive risk counselling.

How to Prepare

  • No fasting is required
  • Use an EDTA vacutainer for whole blood collection
  • For FTA card, allow the blood spot to air-dry completely before sealing
  • Label the sample with patient name, date of birth, and date of collection
  • Transport the sample at ambient temperature unless otherwise instructed by the laboratory

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"A definitive molecular diagnosis helps a family understand the cause of intellectual disability and enables more accurate recurrence-risk counselling. NGS results should always be interpreted with the clinical findings and a three-generation family pedigree."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per DNA Labs India collection protocol
ContainerEDTA vacutainer / FTA card / Sterile DNA vial
Collection MethodPeripheral blood draw / dried blood spot on FTA card / submitted extracted DNA

Sample Stability

Whole blood in EDTA
FTA card / dried blood spot
Extracted DNA
Sample Rejection Criteria:
  • Incorrectly labelled sample or requisition form
  • Clotted, severely haemolysed, or insufficient blood sample
  • Wet or damaged FTA card
  • Sample received without proper patient identification or clinical indication
  • Sample transported under inappropriate temperature conditions

Understanding Your Results

This test is interpreted in the context of the patient's clinical presentation, family history, and developmental assessment. A genetic diagnosis should always be provided by a qualified medical geneticist or treating physician and not based solely on the laboratory report.
Homozygous pathogenic or likely pathogenic variant in NSUN2 is consistent with autosomal recessive intellectual disability type 5
Compound heterozygous pathogenic variants in trans confirm the molecular diagnosis in the appropriate clinical context
A single heterozygous pathogenic variant may indicate carrier status when a second pathogenic variant is not identified; interpretation should be made by a clinical geneticist
A variant of uncertain significance (VUS) is not sufficient alone for diagnosis and may need segregation analysis in family members
Absence of a pathogenic NSUN2 variant reduces the likelihood of NSUN2-related disease but does not exclude a genetic cause
⚠️ When to Consult a Doctor:

Consult a paediatrician, neurologist, or medical geneticist if a child has developmental delay, delayed speech or language, poor motor coordination, seizures, or a family history of intellectual disability. If an NSUN2 pathogenic variant is identified, genetic counselling should be arranged for the family to understand recurrence risks and testing options.

Limitations

  • ⚠NGS may not detect large deletions/duplications, repeat expansions, uniparental disomy, or methylation abnormalities
  • ⚠A variant of uncertain significance (VUS) may be reported and may require additional family segregation studies
  • ⚠A negative result reduces but does not exclude the possibility of NSUN2-related disease or other genetic causes of intellectual disability
  • ⚠This test should be interpreted in the context of clinical evaluation and by a qualified medical geneticist or neurologist
  • ⚠Pre- and post-test genetic counselling is recommended for all individuals undergoing this test

Risks & Considerations

  • ●Minor pain, bruising, or bleeding at the blood collection site
  • ●Dizziness or fainting during venepuncture
  • ●Emotional distress associated with genetic test results
  • ●Possibility of receiving a variant of uncertain significance

Interfering Factors

  • ●Allogeneic bone marrow stem cell transplant can cause haematopoietic chimerism and affect blood-based DNA results
  • ●Maternal cell contamination in neonatal blood samples can mask the child's true genotype
  • ●Low DNA quantity or degraded DNA can compromise sequencing quality
  • ●Very low-level somatic mosaicism may not be detected by standard NGS
  • ●Variants located outside the covered coding or splice-site regions may not be identified

Compare With Similar Tests

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Frequently Asked Questions

What is NSUN2 gene mental retardation, autosomal recessive type 5?
It is an inherited form of intellectual disability caused by pathogenic variants in the NSUN2 gene. Because it is autosomal recessive, a child usually needs two altered copies of the gene, one from each parent. It is associated with moderate-to-severe intellectual disability, speech delay, motor coordination difficulties, and sometimes seizures.
What are the common symptoms of NSUN2-associated intellectual disability?
Symptoms vary but commonly include intellectual disability, delayed speech and language development, poor motor coordination, behavioural problems, and seizures. Some affected individuals may also have subtle facial or growth differences, but the clinical picture is not uniform.
How is NSUN2 gene intellectual disability diagnosed?
Diagnosis is confirmed by genetic testing. A doctor may recommend NGS-based sequencing of the NSUN2 gene, which looks for disease-causing variants. Clinical evaluation, developmental history, and family pedigree analysis are also essential.
What is the cost of the NSUN2 gene NGS genetic test at DNA Labs India?
The test costs Rs 20000 in India. This includes NGS analysis of the NSUN2 gene. DNA Labs India also offers free home sample collection for online bookings across many cities.
What sample is required for the NSUN2 gene test?
A blood sample in an EDTA vacutainer, an extracted DNA sample, or one drop of blood on an FTA card is accepted. The laboratory will provide the appropriate collection instructions.
Do I need to fast before the NSUN2 gene test?
No, fasting is not required. The test can be done at any time of day.
How long does the NSUN2 genetic test report take?
Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.
What does the NGS test look for in the NSUN2 gene?
The test looks for single-nucleotide variants and small insertions or deletions in the coding and splicing regions of the NSUN2 gene. It does not detect all types of genetic changes, such as large structural rearrangements.
Can this test be used for carrier detection?
Yes. If a pathogenic NSUN2 variant has already been identified in a family, targeted carrier testing can be arranged. In an affected family, parents are usually heterozygous carriers under autosomal recessive inheritance.
Does a negative NSUN2 gene test rule out intellectual disability?
No. A negative result reduces the likelihood of NSUN2-related disease but does not exclude every genetic cause of intellectual disability. Other single-gene, chromosomal, or non-genetic causes may need to be considered.
Why is genetic counselling needed before and after this test?
Genetic counselling helps document the family pedigree, obtain informed consent, explain recurrence risks, and interpret the result accurately. It also addresses the medical and emotional impact of a genetic diagnosis.
In which Indian cities is this test available with home sample collection?
DNA Labs India provides free home sample collection across major cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Jaipur, Ahmedabad, Lucknow, Kanpur, Surat, Nagpur, Indore, Bhopal, Patna, and many other cities across India. Please contact the lab for the complete serviceable area list.
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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