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EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test

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EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test

Short Name: EP300 RTS NGS Test

Also known as: Rubinstein-Taybi Syndrome Type 2, EP300-related RTS

EP300 Gene Rubinstein-Taybi 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 3-4 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 Rubinstein-Taybi Syndrome by identifying pathogenic mutations in the EP300 gene using Next-Generation Sequencing technology.

Test Code
2797
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

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

Method: Venipuncture

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Sample will be transported to the laboratory under controlled conditions for NGS analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are essential before testing.
2
During the Test:Blood sample collection is a simple procedure with minimal discomfort.
3
After the Test:Results will be available in 3-4 weeks; follow-up with a geneticist is advised.

About This Test

Who Should Get This Test

To diagnose Rubinstein-Taybi Syndrome by identifying pathogenic mutations in the EP300 gene using Next-Generation Sequencing technology.

How to Prepare

  • Clinical history of the patient is required.
  • A genetic counseling session to draw a pedigree chart is recommended.
  • Sample can be blood, extracted DNA, or one drop blood on FTA card.

Doctor's Notes

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

"Early diagnosis through NGS testing is crucial for managing Rubinstein-Taybi Syndrome, enabling timely interventions and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the EP300 gene associated with Rubinstein-Taybi Syndrome.
📊

Positive for pathogenic variant

Confirms diagnosis of RTS; genetic counseling and management recommended.

📊

Negative for pathogenic variant

RTS unlikely based on EP300 gene; consider other genetic tests if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms of Rubinstein-Taybi Syndrome are present, such as distinctive facial features, intellectual disability, or broad thumbs and toes, or if there is a family history of RTS.

Limitations

  • ⚠May not detect all genetic variants; genetic counseling is recommended for interpretation.
  • ⚠Does not rule out other genetic disorders with overlapping symptoms.

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection at the puncture site.

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is Rubinstein-Taybi Syndrome?
Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, broad thumbs and toes, and other physical abnormalities.
What causes Rubinstein-Taybi Syndrome?
RTS is primarily caused by mutations in the EP300 or CREBBP genes, which are involved in gene regulation and protein function.
What is the EP300 gene?
The EP300 gene provides instructions for making the p300 protein, which plays a crucial role in regulating gene expression and is associated with RTS type 2.
How is Rubinstein-Taybi Syndrome diagnosed?
Diagnosis involves clinical evaluation, developmental assessment, and genetic testing such as NGS to identify mutations in the EP300 gene.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a powerful technology that sequences entire genes or genomes to detect genetic mutations with high accuracy.
What is the cost of the EP300 RTS NGS test?
The cost at DNA Labs India is INR 20000, with free home sample collection available across India.
Is home sample collection available?
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?
Reports are typically delivered within 3-4 weeks via online portal, email, or WhatsApp.
What are the symptoms of Rubinstein-Taybi Syndrome?
Symptoms include distinctive facial features, intellectual disability, broad thumbs and toes, delayed speech, short stature, heart defects, and recurrent infections.
Can Rubinstein-Taybi Syndrome be treated?
There is no cure for RTS, but management focuses on addressing symptoms through therapies, surgeries, and supportive care.
Is genetic counseling necessary before testing?
Yes, genetic counseling is recommended to understand the test implications, interpret results, and provide family support.
How accurate is the NGS test for RTS?
NGS is highly accurate for detecting mutations in the EP300 gene, but genetic counseling is advised for comprehensive interpretation.
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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