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UNC13B Gene Autism, UNC13B Related NGS Genetic Test

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UNC13B Gene Autism, UNC13B Related NGS Genetic Test

Short Name: UNC13B NGS Genetic Test

Also known as: UNC13B Autism NGS Test, UNC13B Gene Sequencing, UNC13B Related NGS Panel

UNC13B Gene Autism, UNC13B 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 clinical report is usually issued within 3 to 4 weeks from sample receipt. Raw data files (FASTQ, VCF) are shared alongside the report.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the UNC13B gene, known to be associated with autism spectrum disorder. It provides molecular confirmation to support clinical diagnosis, enables precise genetic counseling, and helps guide therapeutic and educational interventions for affected individuals.

Test Code
3926
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The clinical report is usually issued within 3 to 4 weeks from sample receipt. Raw data files (FASTQ, VCF) are shared alongside the report.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. The patient should have a completed clinical history form and genetic counseling session before testing. For children, parents or guardians may be present.

Method: Venipuncture or dried blood spot on FTA card

Step 2

Laboratory Analysis

Blood is drawn by a trained phlebotomist using sterile technique. For FTA card sampling, a few drops of blood are placed on the card and dried. Extracted DNA samples are transferred to the laboratory in appropriate conditions.

Step 3

Report Delivery

The sample is logged and transported to the laboratory at optimal temperature. Patients can track their sample status and will be notified when the report is ready. No post-tests restrictions apply.

Timeline: The clinical report is usually issued within 3 to 4 weeks from sample receipt. Raw data files (FASTQ, VCF) are shared alongside the report.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the UNC13B gene, known to be associated with autism spectrum disorder. It provides molecular confirmation to support clinical diagnosis, enables precise genetic counseling, and helps guide therapeutic and educational interventions for affected individuals.

How to Prepare

  • Use EDTA tube for whole blood collection; do not use heparin.
  • For FTA card, apply one readable drop of blood and allow to air dry for 1 hour.
  • For extracted DNA, ensure a minimum of 2-5µg in a sterile DNA-free tube.
  • Label the sample with patient name, date of birth, and collection date.
  • Maintain sample at room temperature if dispatched within 24 hours; otherwise store at 2-8°C.

Doctor's Notes

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

"A confirmed genetic diagnosis in autism can guide early intervention, medication selection, and family planning decisions. This targeted NGS test for UNC13B is a valuable component of a comprehensive autism evaluation."

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 whole blood or 2-5 µg extracted DNA or one FTA spot
ContainerEDTA tube / sterile DNA vial / FTA card
Collection MethodVenipuncture or dried blood spot on FTA card

Sample Stability

Whole Blood (EDTA)
FTA Card
Extracted DNA
Sample Rejection Criteria:
  • Clotted or hemolysed blood sample without clear labeling
  • Insufficient quantity of blood or DNA
  • FTA card with contaminated spots or contaminated bacterial growth
  • Sample received in a plain tube without anticoagulant
  • Sample that has been kept at room temperature for more than 4 days

Understanding Your Results

The UNC13B NGS genetic test identifies pathogenic or likely pathogenic variants in the UNC13B gene. A positive result indicates that the identified variant may contribute to autism susceptibility. A negative result reduces the likelihood of an UNC13B-related genetic cause but does not rule out other genetic or non-genetic etiologies.
📊

Pathogenic/Likely Pathogenic variant detected

Consistent with a genetic cause for autism phenotype in the proband. Genetic counseling and segregation analysis in family members are recommended.

Recommendation: Clinical correlation with neurodevelopmental assessment; discuss recurrence risk and targeted interventions.

📊

Variants of Uncertain Significance (VUS) detected

A gene variant was found but its clinical significance is unknown. Further family studies or functional tests may clarify.

Recommendation: Consider parental testing and follow-up with clinical geneticist.

📊

No pathogenic variant detected

No mutation in the UNC13B gene was found. Autism may be due to other genes or environmental factors.

Recommendation: Consider broader autism NGS panel or chromosomal microarray analysis.

⚠️ When to Consult a Doctor:

If you observe autism-like symptoms in your child, such as social communication deficits, restricted behaviors, or speech delay, or if there is a family history of UNC13B-related disorders, consult a clinical geneticist or pediatric neurologist for comprehensive evaluation and genetic testing.

Limitations

  • This test analyzes only the UNC13B gene; it does not evaluate other genes associated with autism.
  • NGS may not reliably detect large structural rearrangements, repeat expansions, or deep intronic variants outside the covered region.
  • A negative result does not exclude a genetic or non-genetic cause of autism.
  • Variants of uncertain significance (VUS) may be reported; further family studies may be needed for classification.

Risks & Considerations

  • No significant physical risks associated with blood collection except minor pain, bruising, or rare infection.
  • Psychological impact of receiving a genetic result — genetic counseling is provided.
  • Possible findings of uncertain significance or secondary findings requiring additional testing.

Interfering Factors

  • Maternal cell contamination in fetal or cord blood samples
  • Extreme hemolysis or clotted blood sample
  • DNA degradation due to improper storage or transport
  • Presence of donor-derived DNA after bone marrow transplant
  • Incomplete clinical history or incorrect pedigree information

Compare With Similar Tests

TestUNC13B Gene Autism, UNC13B Related NGS Genetic TestUNC13B NGS Genetic TestAutism Spectrum Disorder Full PanelChromosomal Microarray (CMA)Fragile X Syndrome Test
ComparisonUNC13B Gene Autism, UNC13B Related NGS Genetic Test

Frequently Asked Questions

What is the UNC13B gene?
The UNC13B gene provides instructions for making a protein critical for neurotransmitter release from nerve cells. It helps in docking and priming of synaptic vesicles, ensuring proper signal transmission between neurons.
How is UNC13B related to autism?
Mutations in the UNC13B gene can disrupt neurotransmitter release, leading to altered brain signaling that contributes to autism spectrum disorder symptoms. Research links these variants with neurodevelopmental differences.
What does the UNC13B NGS genetic test detect?
The test uses next-generation sequencing to identify nucleotide variants, small insertions/deletions, and exon-level copy number changes in the UNC13B gene that are known or suspected to cause autism susceptibility.
Who should consider this test?
This test is suitable for children and adults with autism symptoms, developmental delay, intellectual disability, or a family history of UNC13B-related neurodevelopmental conditions. It may be recommended by a neurologist or geneticist.
What sample types are accepted?
We accept whole blood in an EDTA tube, extracted DNA samples, or one drop of blood applied to an FTA card. Each sample type is stable and easy to transport.
Do I need to fast before the test?
No, fasting is not required for this genetic test. The sample can be collected at any time of the day. However, the patient should be calm and relaxed.
How long does it take to receive results?
Results are typically ready in 3 to 4 weeks from sample receipt. We also share raw data files, including FASTQ and VCF, along with the clinical report for full transparency.
What is the cost of the UNC13B NGS genetic test?
The test costs INR 20000 at DNA Labs India. This includes genetic counseling, NGS analysis, clinical report, raw data file sharing, and free home sample collection in eligible cities.
Is home sample collection available?
Yes, DNA Labs India offers free home collection for this test in more than 200 cities across India. A trained phlebotomist will visit your location at a scheduled time.
What if my result is positive for a mutation?
A positive result means a pathogenic or likely pathogenic UNC13B variant was detected. Your doctor may recommend early intervention strategies, surveillance for co-occurring conditions, and genetic counseling for family members.
What if my result is negative?
A negative result means no disease-causing variant was found in the UNC13B gene. Since autism is heterogeneous, other genetic or environmental factors may be involved. Your specialist may suggest broader genetic testing.
Will insurance cover the test?
Coverage depends on your insurance policy. Several government schemes like PMJAY, CGHS, or ECHS may or may not include this genetic test. We recommend verifying with your insurer. We also provide an invoice for reimbursement claims.
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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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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Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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