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Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test

DNA Labs India | ISO 9001:2015 Certified

Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test

Short Name: PWS MS-PCR

Also known as: PWS Methylation Specific PCR, Prader-Willi Syndrome MS-PCR, 15q11-q13 Methylation Analysis

Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test test available at DNA Labs India for ₹11,000. Uses Methylation Specific PCR on Whole Blood samples. Results in Sample accepted by 11 am; report in 12 working days.. Free home collection in 300+ cities across India.

Genetic🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect abnormal methylation in the chromosome 15q11-q13 region and support the diagnosis of Prader-Willi Syndrome when clinical features are suggestive.

Test Code
3572
Price
₹11,000
Sample Type
Whole Blood
Result Time
Sample accepted by 11 am; report in 12 working days.
Fasting Required
No
Method
Methylation Specific PCR
Step 1

Sample Collection

No fasting is required. No special preparation is needed. A duly filled Genomics Clinical Information Requisition Form (Form 20) must accompany the sample.

Method: Peripheral blood draw

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist into a lavender top EDTA tube.

Step 3

Report Delivery

The sample should be shipped refrigerated. Do not freeze. It should reach the laboratory within one week of collection.

Timeline: Sample accepted by 11 am; report in 12 working days.

Patient Instructions

1
Before the Test:No fasting is required. The laboratory requires a duly filled Genomics Clinical Information Requisition Form (Form 20).
2
During the Test:A blood sample will be drawn from a vein into an EDTA tube. The procedure is quick and routine.
3
After the Test:You can resume normal activities immediately after sample collection. The report will be shared after the stipulated reporting time.

About This Test

Who Should Get This Test

To detect abnormal methylation in the chromosome 15q11-q13 region and support the diagnosis of Prader-Willi Syndrome when clinical features are suggestive.

How to Prepare

  • Use 1 Lavender top (EDTA) tube for collection.
  • Collect 4 mL whole blood; 2 mL is the minimum acceptable volume.
  • Ship the sample refrigerated. DO NOT FREEZE.
  • Attach the duly filled Genomics Clinical Information Requisition Form (Form 20).

Doctor's Notes

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

"PWS is often suspected in a newborn with severe hypotonia and poor feeding. Confirmatory methylation-specific PCR testing can help guide early multidisciplinary care and accurate genetic counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume4 mL (2 mL min.)
Container1 Lavender top (EDTA) tube
Collection MethodPeripheral blood draw

Sample Stability

Room Temperature
Refrigerator (2-8°C)
Frozen
Sample Rejection Criteria:
  • Frozen sample
  • Clotted sample
  • Haemolysed sample
  • Sample received in wrong anticoagulant tube
  • Missing or incomplete Genomics Clinical Information Requisition Form (Form 20)

Understanding Your Results

The result of methylation-specific PCR is reported as normal or abnormal based on the methylation pattern at the 15q11-q13 region.
📊

Normal methylation pattern

Normal biparental methylation pattern. No evidence of Prader-Willi Syndrome-associated methylation defect.

📊

Abnormal methylation pattern

Maternal-only methylation pattern is consistent with Prader-Willi Syndrome. Additional molecular testing is recommended to determine the underlying mechanism.

📊

Inconclusive result

Repeat testing or additional genetic investigations may be required after clinical correlation.

⚠️ When to Consult a Doctor:

Consult a pediatrician or clinical geneticist if an infant or child has poor muscle tone, feeding difficulties, developmental delay, excessive appetite or growth failure suggestive of Prader-Willi Syndrome.

Limitations

  • ⚠MS-PCR detects the methylation pattern but does not differentiate between the three main mechanisms causing PWS: deletion, uniparental disomy or imprinting defect.
  • ⚠Additional genetic studies are advised to identify the molecular subtype and provide accurate recurrence-risk counselling.
  • ⚠Results should always be interpreted in the context of clinical findings by a qualified clinical geneticist.

Risks & Considerations

  • ●Pain or discomfort at the venipuncture site
  • ●Mild bruising
  • ●Lightheadedness during blood collection

Interfering Factors

  • ●Frozen sample
  • ●Clotted sample
  • ●Haemolysed sample
  • ●Incorrect anticoagulant tube
  • ●Delayed or inappropriate sample transport

Compare With Similar Tests

TestPrader-Willi Syndrome Mutation Detection Methylation Specific PCR Test
ComparisonPrader-Willi Syndrome Mutation Detection Methylation Specific PCR Test

Frequently Asked Questions

What is Prader-Willi syndrome?
Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder caused by loss of expression of paternally inherited genes in the chromosome 15q11-q13 region. It is associated with infantile hypotonia, poor feeding, hyperphagia, obesity, intellectual disability, short stature and behavioural problems.
Why is methylation-specific PCR used for PWS?
Methylation-specific PCR detects methylation changes at 15q11-q13. It identifies the methylation defect seen in deletion, uniparental disomy and imprinting defects, making it a highly sensitive single test for confirming PWS.
What is the cost of the PWS methylation-specific PCR test?
At DNA Labs India, the test is offered at INR 11,000 including sample collection, processing and analysis.
What sample is required?
Whole blood is required. 4 mL, with a minimum of 2 mL, should be collected in one lavender top EDTA tube and shipped refrigerated. Do not freeze.
Do I need to fast before this test?
No. Fasting is not required for this test.
How will I receive the report?
Reports are generally provided within 12 working days after the sample reaches the laboratory and can be delivered through the online portal, email or WhatsApp.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in multiple cities across India.
What does a normal result mean?
A normal result shows a normal biparental methylation pattern at 15q11-q13 and indicates no evidence of Prader-Willi Syndrome methylation defect.
What does an abnormal result mean?
An abnormal result showing only the maternal methylation pattern is consistent with Prader-Willi Syndrome. Additional genetic studies are needed to identify the specific mechanism and provide recurrence-risk counselling.
Can MS-PCR distinguish PWS from Angelman syndrome?
Methylation-specific PCR is a common first-line test for both PWS and Angelman syndrome because the methylation pattern differs: PWS shows loss of the paternal pattern, while Angelman syndrome shows loss of the maternal pattern. Additional testing is required to define the underlying molecular cause.
Who should request this test?
The test should be requested by a pediatrician, clinical geneticist or other qualified doctor when an infant or child has features such as hypotonia, poor feeding, developmental delay, hyperphagia or growth failure suggestive of PWS.
Is a requisition form required?
Yes, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for this test.
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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