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LRP2 Gene Donnai-Barrow syndrome NGS Genetic Test

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LRP2 Gene Donnai-Barrow syndrome NGS Genetic Test

Short Name: LRP2 Gene DBS NGS Test

Also known as: Donnai-Barrow Syndrome, DBS, LRP2 Gene Disorder

LRP2 Gene Donnai-Barrow syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 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 identify mutations in the LRP2 gene for diagnosis of Donnai-Barrow Syndrome, aiding in early management and genetic counseling.

Test Code
2727
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using aseptic technique.

Step 3

Report Delivery

Apply pressure to puncture site to prevent bruising.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss test implications and draw a family pedigree.
2
During the Test:Blood sample collected and sent for NGS analysis in the laboratory.
3
After the Test:Results reviewed with genetic counselor to discuss findings and next steps.

About This Test

Who Should Get This Test

To identify mutations in the LRP2 gene for diagnosis of Donnai-Barrow Syndrome, aiding in early management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Avoid strenuous activity before collection
  • Follow lab instructions for FTA card if used

Doctor's Notes

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

"Early genetic testing for Donnai-Barrow Syndrome is crucial for timely management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: 24 hours at room temperature
DNA: Stable for years if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Clotted blood
  • Incorrect container or labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the LRP2 gene associated with Donnai-Barrow Syndrome.
📊

Positive

Pathogenic variant detected, consistent with Donnai-Barrow Syndrome. Clinical correlation and genetic counseling recommended.

📊

Negative

No pathogenic variants detected. Clinical symptoms may require further evaluation.

📊

Variant of Uncertain Significance

A variant was found but its clinical significance is unknown. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms of Donnai-Barrow Syndrome are present or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all mutations
  • ⚠Variants of uncertain significance may be identified
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

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

Interfering Factors

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

Compare With Similar Tests

TestLRP2 Gene Donnai-Barrow syndrome NGS Genetic TestWhole Exome SequencingSanger SequencingChromosomal MicroarrayGene Panel Testing
ComparisonLRP2 Gene Donnai-Barrow syndrome NGS Genetic Test

Frequently Asked Questions

What is Donnai-Barrow Syndrome?
Donnai-Barrow Syndrome is a rare genetic disorder caused by mutations in the LRP2 gene, leading to physical and developmental abnormalities.
What causes Donnai-Barrow Syndrome?
It is caused by mutations in the LRP2 gene, which affects the megalin protein involved in substance transport in the body.
What are the symptoms of Donnai-Barrow Syndrome?
Symptoms include facial abnormalities, brain and spinal cord issues, heart defects, developmental delays, intellectual disability, and hearing/vision problems.
How is Donnai-Barrow Syndrome diagnosed?
Diagnosis involves clinical evaluation, imaging studies, and genetic testing such as NGS to identify LRP2 gene mutations.
What is the LRP2 gene?
The LRP2 gene provides instructions for making megalin, a protein crucial for transporting substances like vitamin D and cholesterol.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a advanced method that sequences DNA to detect mutations in genes like LRP2 efficiently.
What is the cost of the LRP2 Gene Donnai-Barrow Syndrome NGS Test in India?
The cost is approximately INR 20,000, though it may vary by facility and additional services.
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 results?
Results are typically available within 3-4 weeks after sample collection.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is included to discuss results and implications.
What should I do if I have a family history of Donnai-Barrow Syndrome?
Consider genetic testing and counseling to assess risk and plan for management or family planning.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but emotional impact of results should be considered.
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

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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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