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SYN1 Gene Epilepsy, X-linked, with learning disabilities and behavior disorders NGS Genetic Test

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SYN1 Gene Epilepsy, X-linked, with learning disabilities and behavior disorders NGS Genetic Test

Short Name: SYN1 Gene NGS Test

Also known as: SYN1 gene epilepsy genetic test, X-linked epilepsy with learning disabilities and behavior disorders NGS panel, SYN1 mutation analysis, Synapsin I gene sequencing

SYN1 Gene Epilepsy, X-linked, with learning disabilities and behavior disorders NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation on Blood or Extracted DNA or FTA card blood spot samples. Results in Reports will be delivered within 3 to 4 weeks after sample submission.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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-based genetic test is to detect pathogenic variants in the SYN1 gene associated with X-linked epilepsy, learning disabilities, and behavioral disorders. The test aids in confirming a clinical diagnosis, guiding treatment decisions, and providing recurrence risk assessment for family planning.

Test Code
4086
Price
₹20,000
Sample Type
Blood or Extracted DNA or FTA card blood spot
Result Time
Reports will be delivered within 3 to 4 weeks after sample submission.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger confirmation
Step 1

Sample Collection

No specific preparation is required. It is recommended to carry any previous investigation reports and the clinical history/pedigree information.

Method: Venipuncture or fingerstick for FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect a peripheral blood sample (2-3 ml in EDTA). Alternatively, an FTA card blood spot may be prepared with one drop of capillary blood.

Step 3

Report Delivery

The sample is labelled and shipped to the laboratory. The patient can resume daily activities immediately after collection.

Timeline: Reports will be delivered within 3 to 4 weeks after sample submission.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to understand the pre-test implications, inheritance pattern, and possible outcomes. No special medical preparation is required.
2
During the Test:The test involves a simple blood draw or FTA card blood spot. No sedation is required.
3
After the Test:Post-test genetic counseling is strongly advised for result interpretation, psychological support, and family planning options. The final report will be sent along with raw data files.

About This Test

Who Should Get This Test

The purpose of this NGS-based genetic test is to detect pathogenic variants in the SYN1 gene associated with X-linked epilepsy, learning disabilities, and behavioral disorders. The test aids in confirming a clinical diagnosis, guiding treatment decisions, and providing recurrence risk assessment for family planning.

How to Prepare

  • EDTA blood: Collect 2-3 ml in a lavender-top vacutainer
  • FTA card: Apply one drop of blood onto the designated circle and air-dry
  • Clearly write the patient's name, ID, and date of collection on the label

Doctor's Notes

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

"Genetic testing for SYN1 mutations is valuable in family planning. For patients with an affected male child, carrier testing in the mother and appropriate prenatal counseling are essential to assess the recurrence risk and make informed reproductive decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or FTA card blood spot
Sample Volume2-3 ml blood (EDTA) or 1 µg extracted DNA
ContainerEDTA vacutainer / DNA tube / FTA card
Collection MethodVenipuncture or fingerstick for FTA card

Sample Stability

EDTA blood at room temperature
EDTA blood at 2-8°C
Extracted DNA at -20°C
FTA card at room temperature
Sample Rejection Criteria:
  • Clotted blood sample
  • Hemolyzed blood sample
  • Sample in heparin or non-EDTA anticoagulant
  • Insufficient volume (<1 ml blood)
  • Sample missing label or leaking container

Understanding Your Results

Interpretation of SYN1 gene NGS genetic test results should be performed by a qualified clinical geneticist. The following points provide guidance.
📊

Pathogenic variant detected

The patient has a genetic cause for X-linked epilepsy. Genetic counseling is strongly recommended for the patient and at-risk family members.

📊

No pathogenic variant detected

A genetic cause in the SYN1 gene is unlikely. Consider other genetic or acquired etiologies. Additional testing such as broader epilepsy panels or whole exome sequencing may be suggested.

📊

Variant of Uncertain Significance (VUS) identified

The clinical significance is currently unknown. Family segregation testing and further functional studies may help reclassify the variant. Genetic counseling is advised.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if the child has recurrent seizures with developmental delay, or if there is a known family history of SYN1 mutation. For reproductive planning, an obstetrician/gynecologist and genetic counselor can help.

Limitations

  • ⚠NGS may not detect all mutation types, including deep intronic variants, large structural rearrangements, or repeat expansions
  • ⚠Variants of uncertain significance (VUS) may require additional family segregation studies
  • ⚠Negative result does not rule out a non-genetic cause or another genetic locus
  • ⚠Low-level somatic mosaicism may be missed

Risks & Considerations

  • ●Minor pain or bruising at the venipuncture site
  • ●Very small risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor quality or degraded DNA sample
  • ●Insufficient sample quantity
  • ●Maternal cell contamination in extracted DNA
  • ●Recent allogeneic bone marrow transplant (confounding genetic profile)
  • ●Consanguinity may complicate variant interpretation

Frequently Asked Questions

What is the SYN1 gene?
The SYN1 gene encodes synapsin I, a neuronal phosphoprotein essential for regulating synaptic vesicle release. Variants in this gene are associated with X-linked epilepsy and learning/behavioral disorders.
How is SYN1-related epilepsy inherited?
SYN1-associated epilepsy follows an X-linked inheritance pattern. Carrier females have a 50% chance of passing the variant to each child. Male offspring carrying the variant are typically affected, while female offspring are usually asymptomatic carriers.
Why are males more commonly affected by SYN1 mutations?
Because males have only one X chromosome, a pathogenic variant in the SYN1 gene is sufficient to cause the condition. Females have a second X chromosome, which often compensates for the mutated copy, resulting in minimal or no symptoms.
What does the SYN1 gene NGS genetic test detect?
The test uses next-generation sequencing (NGS) to analyze the coding and splice-site regions of the SYN1 gene. It detects single nucleotide variants, small insertions and deletions, and large copy number variations (CNVs) in the gene.
What sample types are accepted for this test?
We accept 2-3 ml of peripheral blood in an EDTA vacutainer, an extracted DNA sample (minimum 1 µg), or a one-drop blood sample on an FTA card.
Is fasting required before the test?
No, fasting is not required. You can eat and drink normally before providing a blood sample.
How long does it take to get the test results?
The turnaround time is 3 to 4 weeks after the sample reaches our laboratory, as NGS analysis and Sanger confirmation require several processing steps.
What is the cost of the SYN1 gene NGS test in India?
DNA Labs India offers this test at a special discounted price of INR 20,000. The cost includes genetic counseling and the reporting of raw data files.
Will I receive the raw data files (FASTQ and VCF) along with the clinical report?
Yes, DNA Labs India is the only lab providing full transparency by sharing raw data (FASTQ, VCF, and BAM) along with the conclusive clinical report free of charge.
Can this genetic test be used for prenatal diagnosis?
Yes, if a pathogenic SYN1 variant is known in a family, prenatal testing (chorionic villus sampling or amniocentesis) can be performed after appropriate genetic counseling. You should discuss this option with your obstetrician and geneticist.
Who should undergo this SYN1 gene NGS test?
The test is recommended for individuals with undiagnosed epilepsy and learning disability or behavioral disorders, families with suspected X-linked epilepsy, and women who are carriers or at risk of carrying an SYN1 variant.
Does a negative SYN1 result rule out genetic epilepsy?
No, a negative result means no mutation was detected in the SYN1 gene. However, other genetic or acquired causes of epilepsy cannot be excluded. A broad epilepsy gene panel or whole exome sequencing may be suggested if clinical suspicion remains high.
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.

LIMS Integration

Your Data Privacy

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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