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NLGN4X Gene Autism Susceptibility, X-Linked Type 2 NGS Genetic Test

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NLGN4X Gene Autism Susceptibility, X-Linked Type 2 NGS Genetic Test

Short Name: NLGN4X Autism NGS

Also known as: NLGN4X Gene Sequencing, Autism X-Linked Type 2 Genetic Test, Neuroligin 4X Gene Test

NLGN4X Gene Autism Susceptibility, X-Linked Type 2 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 turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory. The report will include the NGS findings, variant interpretation, and clinical summary.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of this NGS genetic test is to identify disease-causing mutations in the NLGN4X gene that increase susceptibility to autism spectrum disorder. The test helps in confirming a genetic diagnosis, enabling early intervention, personalized management, and informed genetic counselling for the patient and family members.

Test Code
3904
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory. The report will include the NGS findings, variant interpretation, and clinical summary.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. A genetic counselling session is recommended to draw a pedigree chart of family members affected with NLGN4X Gene Autism susceptibility. Please bring any prior genetic testing reports, clinical records, and a detailed family history.

Method: Peripheral blood draw, saliva collection or FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect 2-3 mL venous blood into an EDTA tube for DNA extraction. Alternatively, a saliva sample may be collected using an Oragene kit, or a few drops of blood can be placed on an FTA card. The procedure is quick and safe.

Step 3

Report Delivery

The sample is labeled and transported to the DNA Labs India laboratory at ambient temperature. The patient can resume normal activities immediately. The sample will be processed within a few days, and a report will be delivered in 3 to 4 weeks.

Timeline: The turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory. The report will include the NGS findings, variant interpretation, and clinical summary.

Patient Instructions

1
Before the Test:Before undergoing the NLGN4X gene test, patients or parents should receive genetic counselling to understand the purpose, limitations, and psychosocial impacts. A detailed family pedigree is drawn to assess X-linked inheritance patterns. No fasting is required.
2
During the Test:A blood sample is collected by a qualified phlebotomist. The entire procedure takes about 5-10 minutes. For children or anxious patients, a saliva sample may be simpler. After collection, the sample is securely stored and sent to the laboratory.
3
After the Test:No restrictions are needed after sample collection. The patient can return to regular activities. The laboratory will process the NGS and release the report in 3 to 4 weeks. The patient or referring physician will receive the report via email or the patient portal.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to identify disease-causing mutations in the NLGN4X gene that increase susceptibility to autism spectrum disorder. The test helps in confirming a genetic diagnosis, enabling early intervention, personalized management, and informed genetic counselling for the patient and family members.

How to Prepare

  • Do not eat or drink anything for 30 minutes before saliva collection if using a saliva kit
  • Do not use mouthwash before saliva collection
  • If using blood sample, no special preparations are needed
  • Ensure the sample container is labeled correctly
  • Transport the sample at room temperature if the arrival at lab is within 24 hours; refrigerate if storing for up to 7 days

Doctor's Notes

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

"Genetic testing for NLGN4X is recommended for families with suspected X-linked autism or related neurodevelopmental conditions. Genetic counselling should accompany testing to help interpret results and guide reproductive decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL blood or equivalent
ContainerEDTA Vacutainer / FTA Card / Saliva Kit
Collection MethodPeripheral blood draw, saliva collection or FTA card spot

Sample Stability

Whole blood (EDTA) at room temperature
Whole blood (EDTA) at 2-8°C
FTA card at room temperature
Extracted DNA at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Sample leaking from container
  • Mislabeled or unlabeled sample
  • Sample received after prolonged delay without proper storage

Understanding Your Results

The report describes whether a pathogenic or likely pathogenic variant in the NLGN4X gene was identified. The presence of such a variant supports an increased susceptibility to autism spectrum disorder, with X-linked inheritance. However, the result should be interpreted together with clinical assessment and family history.
📊

No pathogenic variant detected

The NLGN4X gene shows no known disease-causing variants; a genetic cause is not found in this gene, but autism may still be present due to other genes or environmental factors.

📊

Pathogenic / Likely pathogenic variant detected

A disease-associated variant is present, confirming the genetic susceptibility. Genetic counselling is recommended for family testing and risk assessment.

📊

Variant of uncertain significance (VUS)

A genetic variant was found, but its association with autism is not yet clear. Additional family studies or functional analysis may be needed.

📊

Benign/Likely benign variant

The identified variant has no known disease association; it is considered a normal genetic variation.

⚠️ When to Consult a Doctor:

Consult your healthcare provider if you or your child show signs of autism spectrum disorder, including persistent communication difficulties, lack of eye contact, repetitive behaviors, or delayed language skills. A specialist can help arrange developmental assessment and genetic testing.

Limitations

  • This test only analyzes the NLGN4X gene and is not used to diagnose all types of autism
  • Variants of uncertain clinical significance (VUS) may be reported and require further interpretation
  • Large deletions, duplications, or chromosomal rearrangements are not reliably detected by standard NGS sequencing
  • The test does not assess other genetic causes of autism, such as SHANK3, MECP2, or FMR1 mutations
  • Negative results do not completely exclude a genetic basis of autism

Risks & Considerations

  • No significant physical risks are associated with blood collection; minor bruising or discomfort may occur
  • Psychological implications of a positive result, including anxiety or future reproductive planning concerns
  • Possibility of identifying variants of uncertain significance, occasionally leading to further testing
  • Privacy and confidentiality considerations related to genetic information

Interfering Factors

  • Contamination of sample with foreign DNA
  • Degraded or low-quality DNA
  • Maternal cell contamination in prenatal samples
  • Rare sequencing errors in low-complexity regions
  • Incomplete gene coverage due to variants near the sequencing primers

Compare With Similar Tests

TestNLGN4X Gene Autism Susceptibility, X-Linked Type 2 NGS Genetic TestNLGN4X Gene NGS TestMECP2 Gene Rett Syndrome TestFMR1 Gene Fragile X TestAutism Comprehensive NGS Panel
ComparisonNLGN4X Gene Autism Susceptibility, X-Linked Type 2 NGS Genetic Test

Frequently Asked Questions

What is the NLGN4X gene?
The NLGN4X gene provides instructions for making neuroligin 4X, a protein involved in the formation and maintenance of synapses, the connections between nerve cells. Mutations in this gene can disrupt synaptic signaling and contribute to autism susceptibility, particularly in X-linked type 2.
Who is this test meant for?
This test is for individuals with features of autism spectrum disorder, unexplained speech delay, or a family history of X-linked intellectual disability or autism. It may also be used for reproductive planning in families with known NLGN4X mutations.
What does the NGS technique detect in this test?
Next-generation sequencing reads the entire coding regions and splice junctions of the NLGN4X gene to detect single nucleotide variants, insertions, and deletions that may cause autism susceptibility.
What sample is required?
The test accepts 2-3 mL blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. Saliva kits are also acceptable. All collection materials are provided by the lab.
Is fasting required before the test?
No. Fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does it take to get the report?
The turnaround time is typically 3 to 4 weeks from the date the sample reaches the laboratory.
Why should I ask for raw data, FASTQ, and VCF files?
Raw and processed genetic data (FASTQ and VCF files) allow for secondary analysis, re-interpretation of variants in the future, and transparency in the results. DNA Labs India is one of the few laboratories that provides these files along with the clinical report.
Are there any risks in this test?
The test involves a routine blood draw or saliva sample collection, so physical risks are minimal. Emotional and psychological effects may arise after learning about genetic risks; therefore, genetic counselling is recommended.
Can this test diagnose autism?
This test does not provide a definitive autism diagnosis. It identifies whether a genetic mutation in NLGN4X is present that increases susceptibility to autism. A clinical diagnosis of autism must be made by a developmental pediatrician or psychiatrist based on behavioral assessments.
What if the test result is 'negative'?
A negative result means no pathogenic NLGN4X mutation was found. However, autism could still be caused by other genes or non-genetic factors. In that case, further genetic testing, such as an autism panel or chromosomal microarray, may be suggested.
Does DNA Labs India provide home sample collection?
Yes. We offer free home sample collection for this test across all major cities in India, including Delhi, Mumbai, Bangalore, Hyderabad, Chennai, Kolkata, Pune, and over 300 other cities.
What is the cost of the test?
The special discounted price for the NLGN4X Gene Autism Susceptibility X-Linked Type 2 NGS Genetic Test is INR 20000 inclusive of home sample collection and the clinical report with raw data files.
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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