SYNGAP1 Gene Mental retardation, autosomal dominant type 5 NGS Genetic Test
Short Name: SYNGAP1 NGS Test
Also known as: SYNGAP1 gene sequencing, Autosomal dominant mental retardation type 5 genetic test, SYNGAP1-related intellectual disability NGS panel
SYNGAP1 Gene Mental retardation, autosomal dominant type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing on Blood / Extracted DNA / FTA Card Blood samples. Results in Reports are usually available within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect pathogenic variants in the SYNGAP1 gene that cause autosomal dominant type 5 intellectual disability. It helps confirm a clinical diagnosis, guide medical management, and provide recurrence risk information for families.
- Test Code
- 4244
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / FTA Card Blood
- Result Time
- Reports are usually available within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing
Sample Collection
No fasting or special preparation is required. Please carry any previous medical records, imaging, or genetic testing reports for the pre-test counseling session.
Method: Blood draw or DNA submission or FTA card spot
Laboratory Analysis
A small blood sample is collected by a trained phlebotomist. For FTA cards, one drop of blood is applied to the card and allowed to air dry.
Report Delivery
No post-collection restrictions. You can resume your normal daily activities immediately.
Timeline: Reports are usually available within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SYNGAP1 gene that cause autosomal dominant type 5 intellectual disability. It helps confirm a clinical diagnosis, guide medical management, and provide recurrence risk information for families.
How to Prepare
- For blood: collect in an EDTA vacutainer and maintain at ambient temperature.
- For FTA card: apply one drop of blood to the card and allow it to air dry completely.
- For extracted DNA: deliver in a sterile, labelled tube with the required concentration.
- All samples must be labelled with the patient's name, UHID, and date of collection.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"In families with unexplained intellectual disability, a molecular diagnosis helps provide accurate recurrence risk counselling for future pregnancies. A clinical genetics review is essential before and after testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Incorrectly labelled sample
- Haemolysed or clotted blood if insufficient
- Sample received in improper transport medium
- Samples older than recommended transport time
Understanding Your Results
Consult your physician or clinical geneticist if you or your child has developmental delay, intellectual disability, seizures, or behavioural concerns. Genetic testing should only be ordered after proper clinical evaluation and pre-test counseling.
Limitations
- ⚠NGS may not detect all types of variants, such as deep intronic variants or large structural rearrangements, depending on the assay design.
- ⚠A negative result does not exclude a genetic cause of intellectual disability.
- ⚠Variants of uncertain significance may require additional family studies before a definitive conclusion can be made.
Risks & Considerations
- ●Minor bleeding or bruising at the venipuncture site
- ●Uncomfortable sensation during needle insertion
- ●Anxiety related to the genetic testing process or results
Interfering Factors
- ●Very low-quality or degraded DNA samples
- ●Insufficient sample quantity
- ●Contamination with another individual's DNA
- ●Rare deep intronic variants not covered by standard NGS analysis
Compare With Similar Tests
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| Comparison | SYNGAP1 Gene Mental retardation, autosomal dominant type 5 NGS Genetic Test |
Frequently Asked Questions
What is SYNGAP1 gene?
What is the cost of the SYNGAP1 NGS genetic test in India?
What sample is required for the test?
Do I need to fast before sample collection?
How long will the report take?
Will I receive raw data files?
Why is genetic counselling recommended before the test?
Who should undergo this test?
What does a positive or negative result mean?
Is home sample collection available?
Can this test detect all genetic causes of intellectual disability?
Are there any risks from this genetic test?
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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.
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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