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CREBBP Gene Rubinstein-Taybi syndrome NGS Genetic Test

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CREBBP Gene Rubinstein-Taybi syndrome NGS Genetic Test

Short Name: CREBBP RTS NGS Test

Also known as: RTS Genetic Test, CREBBP Mutation Analysis, Rubinstein-Taybi Syndrome DNA Test

CREBBP 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 to 4 Weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the CREBBP gene that cause Rubinstein-Taybi Syndrome, aiding in accurate diagnosis, genetic counseling, and informed medical management.

Test Code
2796
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

No special preparation required. Provide clinical history and family pedigree if available.

Method: Venipuncture or Finger Prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick. For FTA card, a single drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. Genetic counseling session is advised.
2
During the Test:Sample collection is quick and minimally invasive. No special procedures during testing.
3
After the Test:Results are delivered in 3-4 weeks. Follow-up with a genetic counselor is recommended.

About This Test

Who Should Get This Test

To identify mutations in the CREBBP gene that cause Rubinstein-Taybi Syndrome, aiding in accurate diagnosis, genetic counseling, and informed medical management.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Transport samples at ambient temperature unless specified

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for confirming RTS diagnosis, especially in prenatal or pediatric cases with suggestive symptoms, enabling early intervention and family planning."

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
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Finger Prick

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CREBBP gene. Genetic counseling is recommended for understanding implications.
📊

Negative

No pathogenic variant detected in the CREBBP gene. Clinical correlation may be needed.

📊

Positive

Pathogenic variant detected, confirming diagnosis of Rubinstein-Taybi Syndrome.

📊

Variant of Uncertain Significance (VUS)

A variant was found but its clinical significance is unknown. Further testing or family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms suggestive of RTS are present, or if there is a family history of the syndrome, consult a geneticist or pediatrician for evaluation and test recommendation.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions/duplications)
  • ⚠Results require interpretation by a genetic counselor
  • ⚠Does not rule out other genetic disorders with similar symptoms

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Very low risk of infection

Interfering Factors

  • ●Hemolyzed or degraded DNA samples
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is Rubinstein-Taybi Syndrome?
Rubinstein-Taybi Syndrome is a rare genetic disorder characterized by intellectual disability, distinctive facial features, broad thumbs and toes, and other physical abnormalities.
What causes Rubinstein-Taybi Syndrome?
It is primarily caused by mutations in the CREBBP gene, which is involved in regulating gene activity.
Who should consider this genetic test?
Individuals with symptoms such as intellectual disability, distinctive facial features, broad thumbs and toes, or a family history of RTS should consider testing.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the CREBBP gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, testing, and a detailed report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if a pathogenic mutation in the CREBBP gene is detected. A positive result confirms RTS, while a negative result may require further evaluation.
Is genetic counseling recommended?
Yes, genetic counseling is strongly recommended before and after testing to understand the implications and manage the condition.
Can this test be used for prenatal diagnosis?
Yes, it can be used in prenatal settings if there is a suspected risk, but consultation with a specialist is essential.
Are there any risks associated with the test?
The test involves a standard blood draw, which has minimal risks such as bruising or infection at the puncture site.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy for detecting mutations in the CREBBP gene, but no test is 100% infallible. Results should be correlated clinically.
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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