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LBR Gene Greenberg skeletal dysplasia NGS Genetic Test

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LBR Gene Greenberg skeletal dysplasia NGS Genetic Test

Short Name: Greenberg Dysplasia NGS Test

Also known as: Greenberg dysplasia, LBR gene disorder

LBR Gene Greenberg skeletal dysplasia 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

To diagnose Greenberg skeletal dysplasia by identifying pathogenic mutations in the LBR gene using next-generation sequencing technology.

Test Code
4951
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture under sterile conditions.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory under ambient room temperature for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and implications of testing.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Report generation within 3-4 weeks; results shared via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To diagnose Greenberg skeletal dysplasia by identifying pathogenic mutations in the LBR gene using next-generation sequencing technology.

How to Prepare

  • No fasting required
  • Use sterile collection equipment
  • Ensure proper labeling of samples

Doctor's Notes

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

"Early genetic testing with NGS is crucial for accurate diagnosis of Greenberg skeletal dysplasia, enabling timely management and genetic counseling for affected families."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: 2-8°C for up to 24 hours
Extracted DNA: -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the LBR gene associated with Greenberg skeletal dysplasia.
📊

Positive for pathogenic mutation

Confirms diagnosis of Greenberg skeletal dysplasia; genetic counseling recommended.

📊

Negative for pathogenic mutation

No mutations detected; clinical correlation advised if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms of skeletal dysplasia are present, or if there is a family history of genetic disorders, consult a geneticist or specialist for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestLBR Gene Greenberg skeletal dysplasia NGS Genetic Test
ComparisonLBR Gene Greenberg skeletal dysplasia NGS Genetic Test

Frequently Asked Questions

What is Greenberg skeletal dysplasia?
Greenberg skeletal dysplasia is a rare genetic disorder that affects bone growth and development, caused by mutations in the LBR gene.
How is Greenberg skeletal dysplasia inherited?
It is inherited in an autosomal recessive pattern, meaning an affected individual must inherit two mutated copies of the LBR gene, one from each parent.
What are the common symptoms of Greenberg skeletal dysplasia?
Symptoms include short stature, scoliosis, pelvic abnormalities, shortened limbs, joint stiffness, dental abnormalities, and sometimes intellectual disability.
How is Greenberg skeletal dysplasia diagnosed?
Diagnosis involves physical examination, imaging studies like X-rays, and genetic testing to confirm mutations in the LBR gene.
What is the NGS Genetic Test for Greenberg dysplasia?
It is a next-generation sequencing test that analyzes the LBR gene to identify mutations causing the disorder.
What is the cost of the LBR Gene Greenberg Skeletal Dysplasia NGS Genetic Test in India?
The cost is approximately INR 20,000, with potential discounts for online bookings.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can the NGS test detect all mutations in the LBR gene?
While NGS is comprehensive, it may not detect all types of mutations; genetic counseling is recommended for interpretation.
What should I do if the test results are positive?
Consult a geneticist or specialist for further evaluation, management options, and genetic counseling.
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.

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