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SETD2 Gene Autism, SETD2 Related NGS Genetic Test

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SETD2 Gene Autism, SETD2 Related NGS Genetic Test

Short Name: SETD2 Gene Autism NGS Test

Also known as: SETD2 Gene Sequencing, SETD2-related Neurodevelopmental Disorder NGS Test, Autism NGS Genetic Panel – SETD2

SETD2 Gene Autism, SETD2 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 The test report will be available within 3 to 4 weeks from the date the sample is received by the laboratory.. Free home collection in 300+ cities across India.

NGSAll 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 test is to detect pathogenic variants in the SETD2 gene that are associated with autism spectrum disorder and related neurodevelopmental abnormalities. It is intended for individuals who present with clinical features suggestive of SETD2-related disease or for those with an existing diagnosis of ASD where genetic etiology needs to be explored.

Test Code
3924
ICD Code
F84.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The test report will be available within 3 to 4 weeks from the date the sample is received by the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is needed. Clinical history and genetic counseling are required prior to sample collection. The patient or family should bring any previous medical records or genetic test reports.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

For blood sample, a standard venipuncture will be performed. For FTA card, one drop of blood is placed on the designated card. The process is quick and minimally invasive.

Step 3

Report Delivery

The sample will be sent to the laboratory for DNA extraction and NGS analysis. Results are typically available within 3 to 4 weeks. Genetic counseling for result interpretation is recommended.

Timeline: The test report will be available within 3 to 4 weeks from the date the sample is received by the laboratory.

Patient Instructions

1
Before the Test:A detailed clinical history and genetic counseling session will be conducted. The genetic counselor will draw a pedigree to understand family patterns. Discuss with your doctor about the benefits, risks, and limitations of the test.
2
During the Test:The sample is collected (blood or FTA card) and sent to the laboratory. No invasive procedures are involved. The testing process involves DNA extraction, library preparation, NGS sequencing, and bioinformatics analysis.
3
After the Test:Your doctor will receive the clinical report, including raw data files (FASTQ, VCF) and the interpreted result. A follow-up genetic counseling session is recommended to understand the result and its implications.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the SETD2 gene that are associated with autism spectrum disorder and related neurodevelopmental abnormalities. It is intended for individuals who present with clinical features suggestive of SETD2-related disease or for those with an existing diagnosis of ASD where genetic etiology needs to be explored.

How to Prepare

  • For blood collection: Use EDTA-coated vacuum tube.
  • For FTA card: Apply one drop of blood onto the FTA card and allow to air dry.
  • Label the sample with patient name, date of birth, and collection date.
  • Ship samples at ambient temperature (15-25°C) for FTA cards; blood tubes should be transported in a cold pack if possible.

Doctor's Notes

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

"Genetic testing plays a key role in identifying the underlying cause of autism spectrum disorder. A definitive diagnosis of SETD2-related disease can help families access appropriate genetic counseling and management."

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 or equivalent DNA
ContainerEDTA vacutainer / FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood (EDTA)
Extracted DNA
FTA card
Sample Rejection Criteria:
  • Clotted blood sample
  • Hemolyzed blood sample
  • Insufficient quantity of sample
  • Improperly labelled sample
  • Expired FTA card

Understanding Your Results

Interpretation of the SETD2 NGS genetic test is performed by qualified molecular geneticists. Identified variants are classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines. The clinical significance is correlated with the patient's phenotype and family history.
📊

Pathogenic variant detected

Consistent with a diagnosis of SETD2-related autism spectrum disorder. Genetic counseling is strongly recommended.

📊

Likely pathogenic variant detected

Likely causative; further family studies may be helpful.

📊

Variant of uncertain significance (VUS)

Insufficient evidence to determine clinical significance; additional testing of family members may aid classification.

📊

No pathogenic variant detected

No disease-causing variants identified in the SETD2 gene. Other genetic causes should be considered.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if the child shows signs of autism spectrum disorder, especially with developmental delay, speech regression, or a family history of genetic conditions. Genetic testing should be considered as part of a complete diagnostic workup.

Limitations

  • ⚠This test detects sequence variants and small insertions/deletions in the SETD2 gene coding regions and splice sites only.
  • ⚠Large deletions, duplications, or structural rearrangements may not be detected by standard NGS sequencing.
  • ⚠Deep intronic variants, promoter variants, and regulatory element changes may be missed.
  • ⚠Variants of uncertain significance (VUS) may be reported; further studies may be needed to clarify clinical relevance.
  • ⚠Negative results do not exclude a genetic cause of autism; other genes may be involved.

Risks & Considerations

  • ●There are no significant physical risks associated with blood collection.
  • ●Possible minor bruising or discomfort at the venipuncture site.
  • ●Psychological impact of receiving a genetic diagnosis.
  • ●The test may not identify a genetic cause, which can cause uncertainty.

Interfering Factors

  • ●Presence of maternal cell contamination in blood samples
  • ●Sample clotting or hemolysis
  • ●Insufficient DNA quantity or quality
  • ●Recent blood transfusion (allogeneic contamination)

Compare With Similar Tests

TestSETD2 Gene Autism, SETD2 Related NGS Genetic TestChromosomal Microarray (CMA)Whole Exome Sequencing (WES)Fragile X Syndrome DNA Test
ComparisonSETD2 Gene Autism, SETD2 Related NGS Genetic Test

Frequently Asked Questions

What is the SETD2 gene and how is it linked to autism?
The SETD2 gene provides instructions for creating a protein that acts as a histone methyltransferase. This protein modifies chromatin structure and regulates gene expression. Pathogenic variants in SETD2 have been found in some individuals with autism spectrum disorder and intellectual disability.
What are the symptoms observed in SETD2-related autism?
Common symptoms may include delayed speech and language development, social interaction difficulties, repetitive behaviors, cognitive impairment, and sometimes additional congenital features. However, symptoms can vary widely between individuals.
What is the cost of the SETD2 genetic test in India?
The cost of the SETD2 Related NGS Genetic Test at DNA Labs India is approximately INR 20,000. Home sample collection is available free of cost across many cities in India.
What type of sample is required for the SETD2 NGS test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. Whole blood in an EDTA tube is the most common sample type.
How long does it take to get the results?
The turnaround time for the SETD2 NGS genetic test is 3 to 4 weeks after the sample is received at the laboratory.
Are raw data and VCF files provided with the report?
Yes, DNA Labs India is transparent and provides raw data files (FASTQ and VCF) along with the clinical test report for the SETD2 gene autism genetic test.
Can this test be done for children?
Yes, the SETD2 gene NGS test is suitable for individuals of all ages, including children with autism or developmental delay. A sibling or parent may also be tested for segregation if a variant is found.
What is the role of genetic counseling before testing?
Genetic counseling helps draw a family pedigree, assess hereditary risk, explain the benefits and limitations of testing, and obtain informed consent. It is an essential part of the genetic testing process.
Does a negative result rule out autism?
No. A negative SETD2 gene test does not rule out autism or its genetic cause, because many other genes and environmental factors can contribute to autism. A negative result simply means no pathogenic variants were found in the SETD2 gene.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for the SETD2 Gene Autism NGS Genetic Test across major cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, and many others.
What is the methodology used for this genetic test?
The test uses Next Generation Sequencing (NGS) technology to sequence the entire coding region and splice sites of the SETD2 gene. The identified variants are validated and classified according to ACMG guidelines.
What does 'Variant of Unknown Significance' mean?
A variant of unknown significance (VUS) is a genetic change that has not yet been classified as pathogenic or benign. It requires further investigation, including family studies, to determine if it may contribute to the clinical phenotype.
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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