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ASXL1 Gene Bohring-Opitz syndrome NGS Genetic Test

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ASXL1 Gene Bohring-Opitz syndrome NGS Genetic Test

Short Name: ASXL1 Gene Bohring-Opitz Syndrome Test

Also known as: ASXL1 Mutation Test, Bohring-Opitz Syndrome Genetic Test, ASXL1-Related Disorder Test

ASXL1 Gene Bohring-Opitz 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 SequencingPediatric🏠 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 diagnose Bohring-Opitz Syndrome by detecting pathogenic mutations in the ASXL1 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5678
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 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 a vein in the arm.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding; the sample will be processed for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:The sample undergoes NGS analysis in the laboratory to sequence the ASXL1 gene.
3
After the Test:Results are reviewed by a clinical geneticist and a report is generated for the referring physician.

About This Test

Who Should Get This Test

To diagnose Bohring-Opitz Syndrome by detecting pathogenic mutations in the ASXL1 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • No fasting required unless specified by physician
  • Bring valid identification and prescription
  • Inform about any medications or health conditions

Doctor's Notes

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

"Early genetic testing for ASXL1 mutations is crucial for managing Bohring-Opitz Syndrome and providing family counseling to understand inheritance risks."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent
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:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ASXL1 gene, which are associated with Bohring-Opitz Syndrome.
Positive: Pathogenic variant detected, consistent with Bohring-Opitz Syndrome diagnosis
Negative: No pathogenic variants detected, but clinical correlation is necessary
Variant of uncertain significance (VUS): Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms of Bohring-Opitz Syndrome are present, or for family planning and genetic counseling after a positive result.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Not validated for prenatal diagnosis unless specified

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection or fainting

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestASXL1 Gene Bohring-Opitz syndrome NGS Genetic TestChromosomal Microarray AnalysisWhole Exome Sequencing
ComparisonASXL1 Gene Bohring-Opitz syndrome NGS Genetic TestDetects chromosomal abnormalities but may miss single-gene mutations like ASXL1.Broader analysis of all genes, but more costly and time-consuming than targeted ASXL1 testing.

Frequently Asked Questions

What is Bohring-Opitz Syndrome?
Bohring-Opitz Syndrome is a rare genetic disorder caused by mutations in the ASXL1 gene, leading to severe intellectual disability, distinctive facial features, and other developmental issues.
What causes Bohring-Opitz Syndrome?
It is caused by de novo or inherited mutations in the ASXL1 gene, which plays a role in gene regulation during development.
How is the ASXL1 Gene Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the ASXL1 gene from a blood or saliva sample for pathogenic mutations.
What is the cost of the test?
The ASXL1 Gene Bohring-Opitz Syndrome NGS Genetic Test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get 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 ASXL1 gene are detected, which can confirm or rule out Bohring-Opitz Syndrome.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand implications and inheritance patterns.
Can this test be used for prenatal diagnosis?
It is not routinely used for prenatal diagnosis unless specifically indicated and validated for such purposes.
What are the symptoms of Bohring-Opitz Syndrome?
Common symptoms include severe intellectual disability, distinct facial features, low muscle tone, seizures, respiratory problems, and spinal abnormalities.
How accurate is the NGS test?
NGS is highly accurate for detecting mutations in the ASXL1 gene, but accuracy depends on sample quality and laboratory protocols.
Is the test covered by insurance?
Coverage varies by insurance provider; it is advisable to check with your insurer for specific 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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✓ 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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