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LMX1B Gene Nail-Patella syndrome NGS Genetic Test

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LMX1B Gene Nail-Patella syndrome NGS Genetic Test

Short Name: Nail-Patella Syndrome Genetic Test

Also known as: Nail-Patella Syndrome Genetic Test, LMX1B Gene Test, NPS Genetic Test

LMX1B Gene Nail-Patella syndrome 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 Sequencing🏠 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

To detect mutations in the LMX1B gene for accurate diagnosis of Nail-Patella Syndrome, enabling early management and genetic counseling.

Test Code
5062
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 review and genetic counseling recommended to understand test implications.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture; minimal discomfort.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, implications, and obtain informed consent.
2
During the Test:Blood sample collection via venipuncture; procedure takes a few minutes.
3
After the Test:Wait for results (3-4 weeks) and attend follow-up genetic counseling for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the LMX1B gene for accurate diagnosis of Nail-Patella Syndrome, enabling early management and genetic counseling.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription
  • Ensure proper sample labeling

Doctor's Notes

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

"Genetic testing for Nail-Patella Syndrome is crucial for early diagnosis, management, and family planning to prevent complications."

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
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the LMX1B gene, which is associated with Nail-Patella Syndrome.
📊

Positive

Pathogenic variant detected in LMX1B gene, consistent with Nail-Patella Syndrome. Clinical correlation and genetic counseling advised.

📊

Negative

No pathogenic variants detected. However, clinical symptoms may require further testing or evaluation.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found, but its clinical significance is unknown. Follow-up testing and consultation recommended.

⚠️ When to Consult a Doctor:

If you experience symptoms of Nail-Patella Syndrome, have a family history of the condition, or for family planning purposes.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or intronic variants
  • ⚠Clinical correlation is necessary for diagnosis
  • ⚠Results should be interpreted by a genetic specialist

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

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

Frequently Asked Questions

What is Nail-Patella Syndrome?
Nail-Patella Syndrome (NPS) is a rare genetic disorder that affects the nails, knees, elbows, pelvis, and kidneys, caused by mutations in the LMX1B gene.
What causes Nail-Patella Syndrome?
NPS is caused by mutations in the LMX1B gene, which is involved in the development of various body parts. It is inherited in an autosomal dominant pattern.
What are the common symptoms of NPS?
Symptoms include abnormal or absent nails, knee pain and stiffness, elbow abnormalities, pelvic issues, eye problems, proteinuria, and high blood pressure.
How is Nail-Patella Syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the LMX1B Gene NGS Genetic Test, which detects mutations in the LMX1B gene.
What is the LMX1B gene?
The LMX1B gene provides instructions for making a protein that is essential for the development of nails, kidneys, and other body parts. Mutations in this gene cause NPS.
What is NGS Genetic Test?
Next-Generation Sequencing (NGS) is a advanced genetic testing method that can sequence multiple genes simultaneously, offering high accuracy for detecting mutations.
How much does the LMX1B Gene Nail-Patella Syndrome NGS Genetic Test cost?
The test costs INR 20,000 at DNA Labs India, which includes the test, result interpretation, and genetic counseling.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling included in the test cost?
Yes, genetic counseling is included to help understand test results and implications for health and family planning.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What should I do if I test positive for NPS?
If positive, consult a healthcare provider for management options, which may include monitoring kidney function, orthopedic care, and genetic counseling for family members.
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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