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DNA Labs India

SHANK2 Gene Autism Susceptibility, X-Linked Type 17 NGS Genetic Test

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SHANK2 Gene Autism Susceptibility, X-Linked Type 17 NGS Genetic Test

Short Name: SHANK2 NGS Test

Also known as: SHANK2 Gene NGS Test, Autism Susceptibility X-Linked Type 17 Genetic Test, SHANK2 Mutation Analysis, SHANK2 Next-Generation Sequencing Test

SHANK2 Gene Autism Susceptibility, X-Linked Type 17 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 3 to 4 weeks from sample receipt. 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 genetic test is to detect sequence variants in the SHANK2 gene that may contribute to autism susceptibility. Identification of a pathogenic or likely pathogenic variant can provide useful information for diagnosis, management, and recurrence risk counselling. The test is not intended to diagnose autism by itself; results must always be combined with clinical and developmental history.

Test Code
3908
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session is recommended before testing to document clinical history and draw a family pedigree chart. No fasting is required.

Method: Peripheral blood collection / FTA blood spot

Step 2

Laboratory Analysis

A small amount of blood will be collected from a vein. For children or infants, a few drops of blood may be collected on an FTA card.

Step 3

Report Delivery

No special precautions are needed. You can resume normal activities immediately. The sample will be transported to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:A genetic counselling session is recommended to review the family history, draw a pedigree, and discuss the benefits, limitations, and possible outcomes of the test.
2
During the Test:The test requires a blood sample. A trained phlebotomist will collect the sample using standard safety precautions. For children, a heel or finger prick sample on an FTA card may be used.
3
After the Test:There are no activity restrictions after sample collection. The laboratory will process the sample and provide the report in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect sequence variants in the SHANK2 gene that may contribute to autism susceptibility. Identification of a pathogenic or likely pathogenic variant can provide useful information for diagnosis, management, and recurrence risk counselling. The test is not intended to diagnose autism by itself; results must always be combined with clinical and developmental history.

How to Prepare

  • No special preparation such as fasting is required.
  • A genetic counselling session should be done to draw a pedigree chart of family members.
  • Home sample collection can be arranged by DNA Labs India for online bookings.

Doctor's Notes

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

"Genetic testing is most informative when accompanied by genetic counselling and a detailed family history. A positive SHANK2 result should be interpreted in the context of the complete clinical presentation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer / DNA vial / FTA card
Collection MethodPeripheral blood collection / FTA blood spot

Sample Stability

Whole blood in EDTA: stable for up to 7 days at room temperature.
Extracted DNA: stable for several weeks at 2-8°C and long-term at -20°C.
FTA card: stable at room temperature for several weeks.
Sample Rejection Criteria:
  • Sample received in an inappropriate container without EDTA.
  • Insufficient blood or DNA quantity.
  • Sample received more than 7 days after collection without proper storage.
  • Improperly labelled or misidentified sample.

Understanding Your Results

Results should be interpreted by a qualified physician or clinical geneticist in the context of the individual's clinical history, developmental assessment, and family history.
No pathogenic variant detected: Does not rule out autism or other genetic causes.
Pathogenic variant detected: Indicates increased susceptibility associated with SHANK2; clinical correlation and counselling are recommended.
Likely pathogenic variant detected: Likely associated with increased risk; clinical correlation and family studies may be needed.
Variant of uncertain significance identified: Additional testing or familial segregation studies may be required.
Benign or likely benign variant detected: Not considered associated with increased autism susceptibility.
⚠️ When to Consult a Doctor:

If an individual has symptoms suggestive of autism, developmental delay, or a family history of SHANK2-related disorders, consult a clinical geneticist, neurologist, or developmental paediatrician for further evaluation and genetic counselling.

Limitations

  • ⚠This test covers the coding regions and splice sites of SHANK2; it may not detect all types of mutations.
  • ⚠Targeted NGS may not reliably detect large deletions or duplications, depending on the assay design.
  • ⚠Variants of uncertain significance may be reported and may require additional family studies.
  • ⚠A negative result does not rule out autism or other genetic causes of autism.

Risks & Considerations

  • ●Venipuncture may cause mild pain, bruising, or bleeding at the puncture site.
  • ●Rarely, results may identify a variant of uncertain significance that requires additional evaluation.
  • ●Genetic testing may have psychological and family implications.

Interfering Factors

  • ●Poor DNA quality or quantity can affect NGS performance.
  • ●Deep intronic variants and large structural rearrangements may not be detected by targeted NGS.
  • ●Incomplete or inaccurate clinical information may limit interpretation.

Frequently Asked Questions

What is the SHANK2 gene autism susceptibility X-linked type 17 NGS genetic test?
It is a next-generation sequencing test at DNA Labs India that analyses the SHANK2 gene for pathogenic variants associated with autism susceptibility. It costs INR 20,000.
What sample is required for this test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long will the test report take?
The report is generally available in 3 to 4 weeks.
What is NGS technology?
Next-generation sequencing is a high-throughput DNA sequencing method that allows rapid and accurate analysis of specific genes such as SHANK2.
Will this test diagnose autism?
No. Autism is diagnosed clinically. This test can identify a genetic risk factor, but results must be interpreted in the context of the full clinical picture.
What does a pathogenic variant in SHANK2 mean?
It means a gene change was found that is associated with increased susceptibility to developing autism. It does not mean autism is inevitable; clinical correlation is necessary.
What if no pathogenic variant is found?
A negative result does not exclude autism or other genetic causes, as autism is complex and may involve many genes.
Does DNA Labs India provide raw data files?
Yes. Along with the clinical report, DNA Labs India provides raw data, FASTQ, and VCF files for this test.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in many cities across India.
Do I need genetic counselling before taking this test?
Yes, genetic counselling is recommended to review the family history, draw a pedigree chart, and understand the benefits and limitations of the test.
Can children undergo this test?
Yes, the test can be performed in children, including infants, using a small blood sample or dried blood spot on an FTA card.
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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