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ACTG1 Gene Baraitser-Winter syndrome type 2 NGS Genetic Test

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ACTG1 Gene Baraitser-Winter syndrome type 2 NGS Genetic Test

Short Name: ACTG1 Gene BWS Type 2 NGS Test

Also known as: BWS Type 2 Genetic Test, ACTG1 Mutation Analysis

ACTG1 Gene Baraitser-Winter syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)Pediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose Baraitser-Winter Syndrome Type 2 by detecting pathogenic mutations in the ACTG1 gene using Next-Generation Sequencing (NGS) technology, aiding in clinical management and genetic counseling.

Test Code
5666
Price
₹20,000
Sample Type
Blood
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Baraitser-Winter Syndrome are recommended before testing.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood collection via venipuncture under sterile conditions.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; keep the area clean.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are advised before sample collection.
2
During the Test:Blood sample collection via venipuncture; minimal discomfort expected.
3
After the Test:Monitor the puncture site for any signs of infection or bruising; await report delivery.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Baraitser-Winter Syndrome Type 2 by detecting pathogenic mutations in the ACTG1 gene using Next-Generation Sequencing (NGS) technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure patient identification and consent
  • Use appropriate blood collection tubes
  • Label samples correctly
  • Transport samples at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Collection MethodVenipuncture

Sample Stability

Blood samples should be processed within 24 hours of collection
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrectly labeled or insufficient samples
  • Samples not stored at recommended temperatures

Understanding Your Results

Results from the ACTG1 Gene Baraitser-Winter Syndrome Type 2 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the ACTG1 gene. Positive results confirm a diagnosis, while negative results may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of Baraitser-Winter Syndrome Type 2; genetic counseling and management planning recommended.

📊

Negative for pathogenic variant

No mutations detected in the ACTG1 gene; clinical correlation and additional testing may be needed if symptoms persist.

📊

Variant of uncertain significance (VUS)

Genetic variant identified but clinical significance unknown; follow-up and family studies advised.

⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibit symptoms such as intellectual disability, seizures, distinct facial features, or have a family history of Baraitser-Winter Syndrome. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠May not detect all genetic variants or mutations in non-coding regions
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Hemolyzed or degraded blood sample
  • ●Insufficient sample volume

Frequently Asked Questions

What is the ACTG1 Gene Baraitser-Winter Syndrome Type 2 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the ACTG1 gene, which cause Baraitser-Winter Syndrome Type 2, a rare disorder affecting brain and facial development.
What is the cost of this test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
What are the symptoms of Baraitser-Winter Syndrome Type 2?
Symptoms include distinct facial features, intellectual disability, seizures, abnormal muscle tone, hearing or vision problems, and heart defects.
How is the test performed?
A blood sample is collected via venipuncture and analyzed using NGS technology to sequence the ACTG1 gene.
Is fasting required before the test?
No, fasting is not required for this test.
What is the turnaround time for results?
Results are typically available within 3-4 weeks after sample collection.
How accurate is this genetic test?
NGS technology provides high accuracy in detecting genetic variants, but results should be interpreted in conjunction with clinical findings and genetic counseling.
Are there any risks associated with the test?
Risks are minimal and include minor bruising at the blood draw site and rare infection. Emotional impact of results is also possible.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
Do I need genetic counseling before taking the test?
Yes, genetic counseling is recommended before and after testing to understand implications, draw a pedigree chart, and support decision-making.
What does a positive result mean?
A positive result confirms a diagnosis of Baraitser-Winter Syndrome Type 2, indicating the presence of pathogenic mutations in the ACTG1 gene.
Is this test covered by insurance?
Coverage depends on your insurance plan; it is not typically covered under government schemes like PMJAY or CGHS. Check with your provider for details.
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.

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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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