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ASXL3 Gene Bainbridge-Ropers syndrome NGS Genetic Test

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ASXL3 Gene Bainbridge-Ropers syndrome NGS Genetic Test

Short Name: ASXL3 BRS NGS Test

Also known as: Bainbridge-Ropers Syndrome Genetic Test, ASXL3 Mutation Analysis, BRS NGS Test

ASXL3 Gene Bainbridge-Ropers syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestPediatric🏠 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

To detect mutations in the ASXL3 gene associated with Bainbridge-Ropers Syndrome for diagnostic confirmation, genetic counseling, and management planning.

Test Code
5663
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture from the patient.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding and keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required before sample collection.
2
During the Test:The blood sample is processed in the laboratory, and DNA is extracted for NGS analysis.
3
After the Test:Results are reviewed by a geneticist, and a report is delivered with counseling support.

About This Test

Who Should Get This Test

To detect mutations in the ASXL3 gene associated with Bainbridge-Ropers Syndrome for diagnostic confirmation, genetic counseling, and management planning.

How to Prepare

  • No fasting is required for this test
  • Bring identification and any prescription or referral
  • Inform the healthcare provider about any medications or health conditions

Doctor's Notes

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

"Early genetic testing for Bainbridge-Ropers Syndrome can guide management and family planning. Consult a geneticist for personalized advice."

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 of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample container or labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ASXL3 gene, which are associated with Bainbridge-Ropers Syndrome.
Positive result: Pathogenic variant detected, consistent with a diagnosis of BRS; clinical correlation and genetic counseling recommended
Negative result: No pathogenic variants detected; symptoms may be due to other causes, and further testing might be needed
Variant of uncertain significance: Genetic variant found but not clearly linked to BRS; family studies or additional testing may be advised
⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if symptoms persist, for family planning advice, or to discuss test results and management options.

Limitations

  • ⚠May not detect all types of genetic mutations (e.g., large deletions)
  • ⚠Variants of uncertain significance may be identified, requiring further evaluation
  • ⚠Does not rule out other genetic or non-genetic causes of symptoms

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of test results on the patient and family

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA yield from the sample
  • ●Technical errors during sequencing

Compare With Similar Tests

TestASXL3 Gene Bainbridge-Ropers syndrome NGS Genetic TestWhole Exome SequencingTargeted Gene Panel
ComparisonASXL3 Gene Bainbridge-Ropers syndrome NGS Genetic Test

Frequently Asked Questions

What is Bainbridge-Ropers Syndrome?
Bainbridge-Ropers Syndrome is a rare genetic disorder caused by mutations in the ASXL3 gene, leading to developmental delay, intellectual disability, speech difficulties, and distinctive facial features.
What causes Bainbridge-Ropers Syndrome?
It is caused by pathogenic mutations in the ASXL3 gene, which plays a role in regulating gene expression during development.
What are the common symptoms of BRS?
Common symptoms include developmental delay, intellectual disability, speech and language problems, distinctive facial features (e.g., prominent forehead, wide-set eyes), and behavioral issues like hyperactivity.
How is Bainbridge-Ropers Syndrome diagnosed?
Diagnosis involves clinical evaluation, medical history, and genetic testing such as NGS to identify mutations in the ASXL3 gene.
What does the ASXL3 Gene NGS Genetic Test involve?
The test uses next-generation sequencing to analyze the ASXL3 gene for mutations, typically from a blood sample, and provides detailed results on genetic variants.
How much does the ASXL3 Gene BRS NGS Test cost?
At DNA Labs India, the test costs INR 20000, with home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate whether pathogenic variants in the ASXL3 gene are detected, which can confirm a diagnosis of BRS or suggest further evaluation.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is included to help understand the test, results, and implications for the patient and family.
What should I do after receiving the test results?
Consult a healthcare provider or geneticist to discuss the results, management options, and any necessary follow-up testing or interventions.
Are there any risks associated with this genetic test?
The test itself has minimal risks, such as those from a blood draw, but results may have psychological impacts, so counseling is recommended.
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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