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RETT Syndrome Deletion & Duplication Detection Test

DNA Labs India | ISO 9001:2015 Certified

RETT Syndrome Deletion & Duplication Detection Test

Short Name: RETT Del/Dup Test

Also known as: MECP2 Deletion/Duplication Test

RETT Syndrome Deletion & Duplication Detection Test test available at DNA Labs India for ₹10,500. Uses MLPA on Peripheral blood samples. Results in 7-10 days. Free home collection in 300+ cities across India.

Deletion & Duplication DetectionFemalePediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect deletions or duplications in the MECP2 gene for diagnosis and severity assessment of RETT Syndrome.

Test Code
3181
Price
₹10,500
Sample Type
Peripheral blood
Result Time
7-10 days
Fasting Required
No
Method
MLPA
Step 1

Sample Collection

A doctor's prescription is required for RETT Syndrome deletion & duplication detection. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure to collect peripheral blood in an EDTA vacutainer.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Monitor for any adverse reactions.

Timeline: 7-10 days

Patient Instructions

1
Before the Test:A doctor's prescription is required. No special preparation needed.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Results available in 7-10 days. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To detect deletions or duplications in the MECP2 gene for diagnosis and severity assessment of RETT Syndrome.

How to Prepare

  • Obtain a valid doctor's prescription before sample collection.
  • Ensure the sample is collected in an EDTA vacutainer (2ml).
  • Use a cool pack for sample transport if necessary.
  • No fasting is required for this test.

Doctor's Notes

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

"Genetic testing for RETT Syndrome is crucial for early diagnosis and management. Consult a geneticist or neurologist for evaluation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood
Sample Volume2 ml
ContainerEDTA Vacutainer
Collection MethodVenipuncture

Understanding Your Results

Results indicate the presence or absence of deletions or duplications in the MECP2 gene, which are associated with RETT Syndrome.
📊

Positive for deletion/duplication

Suggests a genetic cause for RETT Syndrome. Correlate with clinical symptoms and consult a genetic specialist.

📊

Negative for deletion/duplication

No pathogenic variants detected in the MECP2 gene. Consider other genetic or clinical evaluations if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of RETT Syndrome are present, such as loss of motor skills, seizures, or developmental regression, especially in females.

Risks & Considerations

  • Minor bruising or discomfort at the puncture site

Frequently Asked Questions

What is RETT Syndrome?
RETT Syndrome is a rare genetic disorder that affects brain development, primarily in females, causing severe physical and mental disabilities.
What does the RETT Syndrome Deletion & Duplication Detection test involve?
This test uses MLPA to detect deletions or duplications in the MECP2 gene from a peripheral blood sample.
What is the cost of this test at DNA Labs India?
The test costs INR 10500, with free home sample collection available across India.
Is home 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 results?
Results are typically available within 7-10 days after sample collection.
What does a positive result mean?
A positive result indicates a deletion or duplication in the MECP2 gene, which may confirm RETT Syndrome diagnosis. Consult a genetic specialist for further guidance.
Is this test covered by insurance?
Coverage depends on your insurance plan. Check with your provider for details.
Who should consider getting this test?
Individuals with symptoms of RETT Syndrome, such as loss of motor skills, seizures, or developmental regression, especially females, should consider testing.
What is MLPA?
MLPA stands for Multiplex Ligation-dependent Probe Amplification, a technique used to detect deletions and duplications in genes like MECP2.
Are there any risks associated with this test?
The test involves a standard blood draw, which may cause minor bruising or discomfort. Serious risks are minimal.
How should I prepare for the test?
No special preparation is needed, but a doctor's prescription is required. No fasting is necessary.
What if the test is negative but symptoms persist?
A negative result does not rule out RETT Syndrome entirely. Consult your doctor for further evaluation, which may include other genetic tests.
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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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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