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ACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic Test

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ACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic Test

Short Name: ACTB Gene BWS Type 1 NGS Test

Also known as: Baraitser-Winter Syndrome Type 1, ACTB-related syndrome

ACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 test is to diagnose Baraitser-Winter Syndrome Type 1 by detecting pathogenic mutations in the ACTB gene using NGS technology, enabling accurate clinical management and genetic counseling.

Test Code
5664
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS (Next Generation Sequencing)
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling as recommended.

Step 2

Laboratory Analysis

Blood sample will be drawn via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding and avoid strenuous activity.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation recommended to assess need for testing.
2
During the Test:Blood sample collection and NGS analysis performed in the laboratory.
3
After the Test:Report generation and genetic counseling for result interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Baraitser-Winter Syndrome Type 1 by detecting pathogenic mutations in the ACTB gene using NGS technology, enabling accurate clinical management and genetic counseling.

How to Prepare

  • No fasting required
  • Bring identification and doctor's prescription
  • Ensure proper labeling of the sample

Doctor's Notes

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

"Early genetic testing for Baraitser-Winter Syndrome Type 1 can aid in timely management, genetic counseling, and family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood

Sample Stability

Stable at room temperature for 24 hours
Refrigerate if delayed processing
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the ACTB gene associated with Baraitser-Winter Syndrome Type 1.
Positive: Pathogenic variant detected, consistent with diagnosis of Baraitser-Winter Syndrome Type 1
Negative: No pathogenic variants detected, reducing likelihood of the syndrome
Variant of uncertain significance: Further testing or clinical correlation may be needed
⚠️ When to Consult a Doctor:

If symptoms suggestive of Baraitser-Winter Syndrome Type 1 are present, or for family planning after a positive result, consult a geneticist or specialist.

Limitations

  • ⚠May not detect all possible mutations in the ACTB gene
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at the puncture site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors during sequencing

Compare With Similar Tests

TestACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic TestWhole Exome SequencingChromosomal Microarray Analysis
ComparisonACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is Baraitser-Winter Syndrome Type 1?
Baraitser-Winter Syndrome Type 1 is a rare genetic disorder caused by mutations in the ACTB gene, affecting brain development and leading to distinctive facial features, intellectual disability, and epilepsy.
What causes Baraitser-Winter Syndrome Type 1?
It is caused by mutations in the ACTB gene, which is involved in cell structure and function.
What are the symptoms of Baraitser-Winter Syndrome Type 1?
Symptoms include distinctive facial features, intellectual disability, epilepsy, microcephaly, hypertelorism, and abnormalities of fingers and toes.
How is Baraitser-Winter Syndrome Type 1 diagnosed?
Diagnosis involves physical examination, medical history evaluation, and genetic testing such as the ACTB Gene NGS Genetic Test.
What is the ACTB Gene NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the ACTB gene to identify mutations associated with Baraitser-Winter Syndrome Type 1.
How is the test performed?
The test requires a blood sample, which is collected via venipuncture and analyzed using NGS technology in the laboratory.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate whether pathogenic mutations in the ACTB gene are detected, aiding in diagnosis and management.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand implications and guide decision-making.
Who should consider this test?
Individuals with symptoms of Baraitser-Winter Syndrome Type 1 or a family history of the condition should consider this test.
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

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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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