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CHRND Gene Multiple pterygium syndrome lethal type NGS Genetic Test

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CHRND Gene Multiple pterygium syndrome lethal type NGS Genetic Test

Short Name: CHRND Gene MPS Lethal Type NGS Test

Also known as: MPS Lethal Type, Multiple Pterygium Syndrome Lethal Type

CHRND Gene Multiple pterygium syndrome lethal type 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.

NGS Genetic TestNeonatal🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose Multiple Pterygium Syndrome Lethal Type by identifying mutations in the CHRND gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5060
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.

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or finger-prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test and implications.
2
During the Test:The test involves sequencing the CHRND gene from a DNA sample.
3
After the Test:Review results with a healthcare provider and discuss management options.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Multiple Pterygium Syndrome Lethal Type by identifying mutations in the CHRND gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Fast for 4-8 hours if specified, but not required for this test
  • Bring identification and doctor's prescription
  • Inform about any medications

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This NGS test is essential for confirming the diagnosis of Multiple Pterygium Syndrome Lethal Type, enabling early intervention and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Blood sample: stable for 48 hours at room temperature
FTA card: stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the CHRND gene. A positive result confirms MPS, while a negative result may require further testing.
📊

Pathogenic mutation detected

Confirms diagnosis of Multiple Pterygium Syndrome Lethal Type. Genetic counseling recommended.

📊

No pathogenic mutation detected

MPS unlikely, but clinical correlation needed. Consider other genetic tests.

📊

Variant of uncertain significance

Further testing and family studies advised.

⚠️ When to Consult a Doctor:

If test results are positive or if there is a family history of MPS, consult a geneticist or pediatrician immediately.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Not for prenatal diagnosis without confirmation

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Frequently Asked Questions

What is Multiple Pterygium Syndrome Lethal Type?
Multiple pterygium syndrome lethal type (MPS) is a rare genetic disorder characterized by multiple joint contractures, pterygia (webbing of the skin), and severe respiratory distress, which usually leads to death in the neonatal period.
What causes MPS Lethal Type?
MPS is caused by mutations in the CHRND gene, which encodes the delta subunit of the acetylcholine receptor at the neuromuscular junction.
How is MPS diagnosed?
Diagnosis is based on clinical features and confirmed by genetic testing, such as the CHRND Gene NGS Genetic Test.
What is the CHRND gene?
The CHRND gene provides instructions for making the delta subunit of the acetylcholine receptor, which is essential for muscle contraction.
What is NGS technology?
Next Generation Sequencing (NGS) is a high-throughput sequencing technology that can sequence millions of DNA fragments in parallel, enabling the detection of mutations in multiple genes simultaneously.
How accurate is this genetic test?
The NGS Genetic Test has high sensitivity and specificity for detecting mutations in the CHRND gene, making it a reliable diagnostic tool.
What are the symptoms of MPS?
Symptoms include multiple joint contractures, pterygia, severe respiratory distress, low birth weight, abnormal facial features, and feeding difficulties.
Is there a cure for MPS?
There is no cure for MPS. Management focuses on supportive care, such as respiratory support and physical therapy.
How much does the test cost?
The cost of the CHRND Gene NGS Genetic Test at DNA Labs India is INR 20,000.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What should I do if the test is positive?
If the test is positive, consult a genetic counselor or healthcare provider for further management, genetic counseling, and family planning advice.
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

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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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