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RBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic Test

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RBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic Test

Short Name: RBPJ Gene AOS3 NGS Test

Also known as: AOS3, Adams-Oliver Syndrome Type 3, RBPJ-related Adams-Oliver Syndrome

RBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports available in 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 Adams-Oliver Syndrome Type 3 by detecting mutations in the RBPJ gene using Next-Generation Sequencing (NGS) technology.

Test Code
4815
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports available in 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Standard phlebotomy or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw using sterile equipment or collection of one drop blood on FTA card.

Step 3

Report Delivery

Store sample at ambient room temperature and transport to the laboratory promptly.

Timeline: Reports available in 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, family history, and obtain informed consent.
2
During the Test:Sample collection via blood draw or FTA card, followed by NGS analysis in the laboratory.
3
After the Test:Results are reviewed by a geneticist, and a clinical report is provided with recommendations.

About This Test

Who Should Get This Test

To diagnose Adams-Oliver Syndrome Type 3 by detecting mutations in the RBPJ gene using Next-Generation Sequencing (NGS) technology.

How to Prepare

  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Avoid hemolysis during blood collection

Doctor's Notes

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

"Early genetic diagnosis of Adams-Oliver Syndrome Type 3 is crucial for managing symptoms, providing genetic counseling, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodStandard phlebotomy or FTA card collection

Sample Stability

Blood samples stable for up to 7 days at room temperature
Extracted DNA stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the RBPJ Gene Adams-Oliver Syndrome Type 3 NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider.
Positive result: Pathogenic mutation detected in the RBPJ gene, confirming diagnosis of AOS3.
Negative result: No pathogenic variant found; consider other genetic or environmental causes.
Variant of uncertain significance (VUS): Further testing or family studies may be required for clarification.
⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist if symptoms of Adams-Oliver Syndrome are present, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all types of mutations or variants
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Cannot predict disease severity or progression

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, requiring counseling

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestRBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic TestNOTCH1 Gene Adams-Oliver Syndrome Type 1 NGS TestDLL4 Gene Adams-Oliver Syndrome Type 2 NGS Test
ComparisonRBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic Test

Frequently Asked Questions

What is Adams-Oliver Syndrome Type 3?
Adams-Oliver Syndrome Type 3 (AOS3) is a rare genetic disorder caused by mutations in the RBPJ gene, leading to abnormalities in the scalp, skull, limbs, and other organs.
How is AOS3 inherited?
AOS3 follows an autosomal dominant inheritance pattern, meaning an affected individual has a 50% chance of passing the mutated gene to their offspring.
What are the common symptoms of AOS3?
Symptoms include scalp and skull malformations, limb defects (especially fingers and toes), heart abnormalities, developmental delays, and cognitive impairment.
How is AOS3 diagnosed?
Diagnosis involves physical examination, medical history, and genetic testing using Next-Generation Sequencing (NGS) to detect mutations in the RBPJ gene.
What is the RBPJ gene?
The RBPJ gene encodes a protein crucial for cell development and differentiation; mutations in this gene cause Adams-Oliver Syndrome Type 3.
What does the NGS genetic test involve?
The test uses Next-Generation Sequencing technology to analyze the RBPJ gene for mutations from a blood or DNA sample.
How much does the RBPJ Gene AOS3 NGS Test cost?
The test costs INR 20,000 at DNA Labs India, 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 results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if the test result is positive?
A positive result confirms AOS3; consult a geneticist for management options, genetic counseling, and family planning advice.
Can Adams-Oliver Syndrome Type 3 be treated?
There is no cure, but symptoms can be managed with multidisciplinary care, including surgical interventions and supportive therapies.
Is genetic counseling provided with the test?
Yes, DNA Labs India includes genetic counseling as part of the test package to help interpret results and provide guidance.
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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✓ 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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