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INPPL1 Gene Opsismodysplasia NGS Genetic Test

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INPPL1 Gene Opsismodysplasia NGS Genetic Test

Short Name: INPPL1 Gene Opsismodysplasia Test

Also known as: Opsismodysplasia Genetic Test, INPPL1 Gene Mutation Analysis

INPPL1 Gene Opsismodysplasia 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.

Next-Generation SequencingAll Ages🏠 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

The purpose of this test is to detect mutations in the INPPL1 gene to diagnose opsismodysplasia, a rare bone growth disorder. It aids in confirming the diagnosis, understanding the genetic basis, and guiding clinical management and genetic counseling for affected individuals and families.

Test Code
5079
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

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Standard blood collection via venipuncture or blood drop on FTA card, performed by a trained phlebotomist.

Step 3

Report Delivery

Sample is labeled, stored at ambient room temperature, and transported to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before testing.
2
During the Test:Blood sample collection is a simple procedure with minimal discomfort.
3
After the Test:Results are available in 3-4 weeks, with genetic counseling provided post-test.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the INPPL1 gene to diagnose opsismodysplasia, a rare bone growth disorder. It aids in confirming the diagnosis, understanding the genetic basis, and guiding clinical management and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure patient identification is accurate
  • Use sterile collection equipment
  • Label samples with patient details and date
  • Avoid hemolysis during blood draw

Doctor's Notes

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

"This test is essential for early diagnosis and genetic counseling in families with a history of opsismodysplasia, aiding in management 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 Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Room Temperature48 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the INPPL1 gene. A positive result confirms opsismodysplasia, while a negative result may require further testing if clinical suspicion remains high.
📊

Pathogenic variant detected

Confirms diagnosis of opsismodysplasia. Genetic counseling recommended.

📊

No pathogenic variant detected

Opsismodysplasia unlikely, but consider other genetic or clinical causes if symptoms persist.

📊

Variant of uncertain significance

Further testing and family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms such as short stature, bone abnormalities, or joint problems are present, or if there is a family history of opsismodysplasia.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples
  • ●Incorrect sample storage

Frequently Asked Questions

What is the INPPL1 Gene Opsismodysplasia NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the INPPL1 gene, which causes opsismodysplasia, a rare bone growth disorder.
Why is this test recommended?
It is recommended for individuals with symptoms of opsismodysplasia, such as short stature and bone abnormalities, or for those with a family history of the condition.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to identify mutations in the INPPL1 gene.
What is the cost of the test?
The cost is INR 20,000 in India, which includes sample collection, analysis, and reporting.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the risks of the test?
Risks are minimal and similar to a standard blood draw, such as bruising or discomfort at the collection site.
What does a positive result mean?
A positive result confirms a diagnosis of opsismodysplasia due to an INPPL1 gene mutation, and genetic counseling is advised.
What if the result is negative?
A negative result makes opsismodysplasia unlikely, but further evaluation may be needed if symptoms persist.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand implications and family risks.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings if there is a known family history, but consultation with a specialist is necessary.
How accurate is the test?
NGS provides high accuracy for detecting mutations, but no test is 100% foolproof; clinical correlation is important.
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

Your Data Privacy

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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