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OXTR Gene Autism, OXTR Related NGS Genetic Test

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OXTR Gene Autism, OXTR Related NGS Genetic Test

Short Name: OXTR Gene NGS Test

Also known as: OXTR Gene Sequencing, Oxytocin Receptor Gene NGS Test, OXTR Gene Autism Genetic Test

OXTR Gene Autism, OXTR Related 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 issued within 3 to 4 weeks of sample receipt at the laboratory. The time may vary if additional confirmatory testing is needed.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 NGS test is to detect clinically significant sequence variants in the OXTR gene that may be associated with autism spectrum disorder and related neurodevelopmental conditions. The test helps clarify the molecular basis of ASD in a specific patient, supports targeted genetic counseling, estimates recurrence risk where applicable, and guides the clinician in selecting further investigations if needed.

Test Code
3927
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks of sample receipt at the laboratory. The time may vary if additional confirmatory testing is needed.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Attend the required genetic counseling session before sample collection. No fasting is needed. Bring previous medical records, prior genetic test reports, family history details, and a valid ID for registration.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Blood will be drawn from a peripheral vein. If using the FTA card, one drop of blood is applied to the card. The procedure is quick and causes minimal discomfort.

Step 3

Report Delivery

No restrictions are needed after sample collection. If excessive bleeding, swelling, or pain occurs at the site, contact your healthcare provider.

Timeline: Reports are issued within 3 to 4 weeks of sample receipt at the laboratory. The time may vary if additional confirmatory testing is needed.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is required. The counselor will prepare a pedigree and explain the possible outcomes. No fasting is required.
2
During the Test:A blood sample is collected or a DNA sample is sent to the NGS laboratory. The DNA is extracted, enriched for OXTR gene regions, and sequenced.
3
After the Test:You can resume everyday activities. The laboratory will analyse the sequence data and provide a report in 3 to 4 weeks. Discuss the report with your clinician.

About This Test

Who Should Get This Test

The purpose of this NGS test is to detect clinically significant sequence variants in the OXTR gene that may be associated with autism spectrum disorder and related neurodevelopmental conditions. The test helps clarify the molecular basis of ASD in a specific patient, supports targeted genetic counseling, estimates recurrence risk where applicable, and guides the clinician in selecting further investigations if needed.

How to Prepare

  • No fasting required.
  • Ensure the tube or FTA card is labelled correctly with the patient's name and ID.
  • Complete the request form with clinical history and family pedigree after genetic counseling.
  • For FTA card, allow the blood spot to air dry completely before sealing.
  • Do not freeze whole blood; keep at room temperature until transport.

Doctor's Notes

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

"OXTR NGS results should always be correlated with clinical findings. Because ASD is heterogeneous, this test is most useful as part of a comprehensive genetic evaluation and counseling plan."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for DNA extraction
ContainerEDTA vacutainer / DNA vial / FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA: 24 hours at 15-25°C; 7 days at 2-8°C.
Extracted DNA: stable at -20°C or below for long-term storage.
FTA card blood spot: stable at room temperature for several weeks.
Sample Rejection Criteria:
  • Clotted, haemolysed, or lipaemic blood sample
  • Inadequate sample volume
  • Unlabelled or mismatched samples/requisition forms
  • FTA card dispatched while blood spot is still wet
  • Incorrect anticoagulant tube

Understanding Your Results

This report should be interpreted by an experienced clinical geneticist or the referring physician. Variants are classified according to ACMG/AMP guidelines. The report will indicate whether a pathogenic, benign, or uncertain variant is identified.
📊

Positive - Pathogenic/Likely pathogenic OXTR variant

📊

Negative - No reportable OXTR variant

📊

Variant of Uncertain Significance (VUS)

⚠️ When to Consult a Doctor:

Consult a paediatrician, neurologist, or clinical geneticist if the child shows early signs such as delayed speech, limited eye contact, poor social responsiveness, or repetitive behaviours. Always discuss the OXTR NGS report with the referring physician or a genetic counselor.

Limitations

  • ⚠This test is limited to the OXTR gene and selected flanking regions.
  • ⚠A negative result does not exclude autism spectrum disorder.
  • ⚠Variants of uncertain significance may be reported and require additional evaluation.
  • ⚠The test is not intended to replace clinical assessment.
  • ⚠Assay sensitivity depends on coverage, variant type, and bioinformatics analysis.

Risks & Considerations

  • ●Mild pain or bruising at the blood collection site
  • ●Dizziness or light-headedness during venipuncture
  • ●Very low risk of infection at the puncture site

Interfering Factors

  • ●Sequence variants located outside the captured target regions
  • ●Large copy-number changes, structural variants, or repeat expansions if not specifically analysed
  • ●Low-level mosaicism below the assay detection limit
  • ●Degraded DNA or sample contamination
  • ●Poor library quality or insufficient read depth

Compare With Similar Tests

TestOXTR Gene Autism, OXTR Related NGS Genetic TestOXTR Gene Targeted NGSAutism/Intellectual Disability NGS PanelChromosomal Microarray Analysis
ComparisonOXTR Gene Autism, OXTR Related NGS Genetic TestFocuses only on the OXTR gene and selected regions. Useful when OXTR involvement is strongly suspected or for research-oriented evaluation.Analyzes multiple genes associated with ASD in a single test, increasing the detection yield for genetically heterogeneous autism spectrum disorders.Detects large copy-number deletions/duplications across the genome, which are not detected by targeted OXTR NGS.

Frequently Asked Questions

What is the OXTR gene?
The OXTR gene provides instructions for making the oxytocin receptor. This protein helps oxytocin bind to brain cells and plays a role in social bonding, emotional regulation, and reproductive functions. Changes in OXTR are being studied in relation to autism spectrum disorder.
Is OXTR gene variation a direct cause of autism?
No single OXTR variant is considered a direct or sole cause of ASD. OXTR variations may contribute to risk in combination with other genetic and environmental factors. Most cases of autism have a complex, multifactorial origin.
What is the cost of the OXTR gene NGS test at DNA Labs India?
The cost of OXTR Gene Autism, OXTR Related NGS Genetic Test is Rs 20,000 at DNA Labs India. The price includes free home sample collection in several Indian cities, but insurance coverage may vary.
What sample is needed for this test?
The acceptable samples are venous blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. The laboratory provides complete collection guidance.
Do I need to fast before this genetic test?
No fasting is required for the OXTR NGS test. However, pre-test genetic counseling is recommended to document the family history and clinical context.
How long does the OXTR gene NGS test take?
Reports are usually available in 3 to 4 weeks after the sample reaches the laboratory. The time is required for DNA sequencing, bioinformatics analysis, and clinical interpretation.
Can a negative OXTR test rule out autism?
No. Autism is diagnosed through clinical observation and developmental assessment. A negative OXTR NGS result does not exclude ASD because many other genes and non-genetic factors are involved.
What types of mutations can this NGS test detect?
This targeted NGS test is designed to detect single nucleotide variants and small insertions/deletions in the OXTR gene. It may not reliably detect large deletions, duplications, structural variants, or repeat expansions.
Will this test confirm a diagnosis of autism?
No. The test provides genetic information that may support a possible OXTR-related contribution, but a diagnosis of ASD is made by a clinician based on behavioural and developmental assessments.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Noida, and many other cities across India.
Why is genetic counseling required with this test?
Genetic counseling helps prepare a family tree, discuss recurrence risks, explain possible test outcomes, and support decision-making. It is especially important if a pathogenic variant or variant of uncertain significance is found.
Are other autism-related genes included in this test?
This specific test focuses on the OXTR gene. DNA Labs India also offers broader autism/intellectual disability NGS panels that include multiple genes. Your clinician can decide which panel is more appropriate.
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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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.

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