Skip to main content
DNA Labs India

SMARCA1 Gene Mental retardation X-linked, SMARCA1 related NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SMARCA1 Gene Mental retardation X-linked, SMARCA1 related NGS Genetic Test

Short Name: SMARCA1 NGS Test

Also known as: SMARCA1 Gene XLID NGS Genetic Test, X-Linked Mental Retardation SMARCA1 Sequencing, SMARCA1 Mutation Analysis, SMARCA1 Gene Sequencing Test

SMARCA1 Gene Mental retardation X-linked, SMARCA1 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Bioinformatics Analysis, Sanger Sequencing Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The chemical report is delivered within 3 to 4 weeks after the sample reaches the laboratory. Urgent processing may be available on special request; please contact our team for current turnaround time options.. Free home collection in 300+ cities across India.

NGS Genetic TestBoth (males predominantly affected)All age groups🏠 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 pathogenic variants in the SMARCA1 gene associated with X-linked intellectual disability. This test aids in molecular confirmation of the clinical diagnosis, enables appropriate genetic counseling, guides management and surveillance strategies, and facilitates informed reproductive decision-making for affected families.

Test Code
4224
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The chemical report is delivered within 3 to 4 weeks after the sample reaches the laboratory. Urgent processing may be available on special request; please contact our team for current turnaround time options.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Bioinformatics Analysis, Sanger Sequencing Confirmation
Step 1

Sample Collection

No fasting or other dietary preparation is required. A genetic counseling session is recommended to document clinical history, draw a pedigree chart of family members, and obtain informed consent. Please bring any previous medical reports, imaging, or genetic test results.

Method: Peripheral blood draw / FTA finger-prick / Extracted DNA submission

Step 2

Laboratory Analysis

For blood collection, a small volume (3-5 mL) will be drawn from a vein in an EDTA tube. For FTA card, one drop of blood from a finger-prick is applied to the card. If submitting extracted DNA, ensure a measured Qubit or Nanodrop reading accompanies the sample.

Step 3

Report Delivery

No post-test restrictions. Patients can immediately resume normal activities. The sample should be packed and transported to the laboratory as per the provided instructions. FTA cards are stable at room temperature; whole blood should be kept at 2-8°C until shipment.

Timeline: The chemical report is delivered within 3 to 4 weeks after the sample reaches the laboratory. Urgent processing may be available on special request; please contact our team for current turnaround time options.

Patient Instructions

1
Before the Test:No special physical preparation is required. However, we recommend an appointment with a genetic counselor before the test to understand the benefits, risks, and limitations of the test. A pedigree chart of three to four generations will be drawn to assess X-linked inheritance.
2
During the Test:The test is performed on a small blood sample or FTA card specimen. The procedure is quick and causes minimal discomfort. For FTA cards, a simple finger-prick may be sufficient. No anesthesia or sedation is required.
3
After the Test:You can return to routine activities immediately. The sample will be transported to the DNA Labs India facility. Reports will be made available online, by email, and on WhatsApp within the promised turnaround time. Genetic counseling will be arranged to explain the results and next steps.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the SMARCA1 gene associated with X-linked intellectual disability. This test aids in molecular confirmation of the clinical diagnosis, enables appropriate genetic counseling, guides management and surveillance strategies, and facilitates informed reproductive decision-making for affected families.

How to Prepare

  • Ensure the sample is collected in the correct container: EDTA tube for whole blood, FTA card for dried blood spot, or sterile vial for extracted DNA.
  • Label the sample with the patient's full name, date of birth, and collection date.
  • Fill the FTA card with a single drop of blood from a finger-prick and allow to dry completely before packaging.
  • For whole blood, gently invert the EDTA tube 8-10 times after collection to prevent clotting.
  • Ship the sample within 24-48 hours using the prepaid courier provided by DNA Labs India.

Doctor's Notes

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

"Genetic testing for X-linked intellectual disability should be accompanied by pre- and post-test counseling. In females, X-chromosome inactivation pattern can significantly influence clinical expression, making results more complex to interpret. Reproductive risk assessment and family planning guidance must be provided alongside molecular diagnosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL whole blood in EDTA / 2-5 μg extracted DNA / 1 FTA spot
ContainerEDTA vacutainer / DNA vial / FTA card
Collection MethodPeripheral blood draw / FTA finger-prick / Extracted DNA submission

Sample Stability

Whole blood (EDTA)7 days
Extracted DNA6 months
FTA card dried blood spot1 year
Sample Rejection Criteria:
  • Haemolysed or clotted blood sample.
  • Inadequate sample quantity (less than 1 mL blood, or DNA <500 ng).
  • Sample without proper label or with mismatched patient identification.
  • Sample missing consent forms or relevant clinical information.
  • Frozen whole blood (lysed red cells) is not acceptable.

Understanding Your Results

This NGS analysis evaluates the SMARCA1 gene for pathogenic variants that are known to cause X-linked intellectual disability. Results are interpreted in the context of the patient's clinical presentation, family history, and supporting test data.
Positive (Pathogenic or Likely Pathogenic variant identified): Confirms the molecular diagnosis of SMARCA1-related X-linked intellectual disability.
Negative (No pathogenic variant identified): Reduces the likelihood of SMARCA1 involvement; however, other genetic and non-genetic causes should be explored.
Variant of Uncertain Significance (VUS): Indicates a variant with unknown impact on health; additional familial testing and functional studies may be recommended.
Benign or Likely Benign variants: No clinical action required; reported for transparency.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or your referring physician immediately after receiving the test report for post-test genetic counseling. This is essential to discuss the clinical implications, inheritance pattern, risk to other family members, and available reproductive options.

Limitations

  • ⚠This test is targeted to the SMARCA1 gene only and does not evaluate other genes associated with intellectual disability.
  • ⚠Large copy number variations (whole gene deletions/duplications) may not be detected unless complementary analyses are performed.
  • ⚠Deep intronic variants, promoter region variants, and certain structural variants are not completely covered.
  • ⚠A negative result does not exclude a genetic cause; further comprehensive testing like whole exome sequencing may be warranted.
  • ⚠Variants of uncertain significance (VUS) may require additional family segregation studies.
  • ⚠Raw data (FASTQ, VCF) are provided for transparency, but the clinical report is based on validated bioinformatics pipelines.

Risks & Considerations

  • ●There are no significant physical risks associated with venous blood collection or FTA card finger-prick.
  • ●Potential psychological impact of receiving a positive genetic test result.
  • ●Risk of genetic discrimination by employers or insurers, though currently rare in India.
  • ●Risk of incidental findings that may be unrelated to the original reason for testing.

Interfering Factors

  • ●Improper sample storage or DNA degradation.
  • ●Insufficient DNA quantity or quality.
  • ●Contamination during sample collection or processing.
  • ●Variants in non-canonical splice sites or deep intronic regions may not be detected.
  • ●Low-level somatic mosaicism may fall below the detection threshold.
  • ●Large gene deletions, duplications or rearrangements may be missed by standard NGS short-read sequencing.

Frequently Asked Questions

What is SMARCA1 gene-related mental retardation?
SMARCA1 gene-related mental retardation is an X-linked disorder caused by pathogenic variants in the SMARCA1 gene. It affects brain development and function, leading to intellectual disability, developmental delay, speech problems, and behavioral abnormalities. Males typically show more severe symptoms, while females may be unaffected or have milder features due to X-inactivation.
Who should take this SMARCA1 NGS genetic test?
This test is recommended for individuals with clinical features suggestive of X-linked intellectual disability, unexplained developmental delay, cognitive impairment, or a family history consistent with X-linked inheritance. Genetic counseling is advised before taking the test.
What is the cost of the SMARCA1 NGS genetic test at DNA Labs India?
The total cost at DNA Labs India is Rs 20000 (INR 20,000), which includes free home sample collection. There are no hidden charges, and the report is provided within 3-4 weeks.
What type of sample is required for this test?
The test can be performed on 3-5 mL of peripheral blood in an EDTA tube, a dried blood spot on FTA card, or extracted DNA. All these sample types are acceptable; please confirm with the lab for the preferred sample based on current logistics.
Is fasting required before sample collection?
No. The SMARCA1 genetic test does not require fasting or any other special dietary restrictions. The sample can be collected at any time of the day.
How is the NGS genetic test performed?
DNA is extracted from the sample and enriched for the SMARCA1 gene target regions. Next-generation sequencing is performed, followed by bioinformatics analysis. Pathogenic and likely pathogenic variants are confirmed by Sanger sequencing to ensure accuracy.
How long does it take to get results?
Results are generally available within 3 to 4 weeks after the sample reaches the laboratory. Urgent processing may be available on request for an additional fee.
What does a positive SMARCA1 test result mean?
A positive result confirms the presence of a pathogenic variant in the SMARCA1 gene. It establishes a molecular diagnosis of SMARCA1-related X-linked intellectual disability and enables targeted management, family risk assessment, and genetic counseling.
What does a negative result mean?
A negative result indicates that no clinically significant pathogenic variant was identified in the SMARCA1 gene. However, it does not completely rule out SMARCA1-related disorder if the clinical suspicion is very high, and additional genetic tests such as whole-exome sequencing or chromosomal microarray may be considered.
Will the test identify all types of mutations in SMARCA1?
This NGS test detects point mutations, small insertions/deletions, and splice-site variants in coding regions. It is not designed to reliably detect large gene deletions/duplications or deep intronic mutations. A separate deletion/duplication analysis may be needed if structural variants are suspected.
Does insurance cover the SMARCA1 genetic test in India?
Genetic testing is generally not covered under standard Indian health insurance policies. Most patients are required to pay out-of-pocket. DNA Labs India offers transparent pricing and helps with any applicable discounts or payment assistance.
Can this genetic test help in family planning decisions?
Yes, identification of a pathogenic SMARCA1 variant in the family allows for prenatal testing and preimplantation genetic testing (PGT) during IVF. Genetic counseling for reproductive planning is strongly recommended for carrier females and at-risk family members.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.