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BRAF Gene LEOPARD syndrome type 3 NGS Genetic Test

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BRAF Gene LEOPARD syndrome type 3 NGS Genetic Test

Short Name: BRAF LEOPARD Syndrome Type 3 Test

Also known as: BRAF-related LEOPARD Syndrome, Multiple Lentigines Syndrome Type 3

BRAF Gene LEOPARD syndrome type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

Genetic TestAll 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

To diagnose LEOPARD syndrome type 3 by identifying mutations in the BRAF gene using Next-Generation Sequencing (NGS) technology, aiding in clinical management and genetic counseling.

Test Code
2760
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
NGS Technology
Step 1

Sample Collection

No special preparation is required. Genetic counseling is recommended prior to testing.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture by a trained phlebotomist, or a drop of blood on an FTA card may be used.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store the sample as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the implications of testing and to obtain informed consent.
2
During the Test:The sample undergoes DNA extraction and NGS analysis to sequence the BRAF gene.
3
After the Test:A detailed report is generated, and genetic counseling is provided to discuss results and next steps.

About This Test

Who Should Get This Test

To diagnose LEOPARD syndrome type 3 by identifying mutations in the BRAF gene using Next-Generation Sequencing (NGS) technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Early genetic testing for LEOPARD syndrome type 3 can guide management, monitor for associated risks like thyroid cancer, and assist in family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood: Stable at 2-8°C for 24 hours
FTA Card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the BRAF gene. A positive result confirms LEOPARD syndrome type 3, while a negative result may require further clinical evaluation.
📊

Positive for BRAF pathogenic variant

Confirms diagnosis of LEOPARD syndrome type 3. Recommend clinical management and monitoring for associated complications.

📊

Negative for BRAF pathogenic variant

No mutation detected in the BRAF gene. Consider other genetic causes or clinical assessment.

📊

Variant of uncertain significance (VUS)

Genetic variant identified but clinical significance is unclear. Requires further testing and genetic counseling.

⚠️ When to Consult a Doctor:

If symptoms of LEOPARD syndrome are present, such as skin spots, heart abnormalities, or developmental delays, or if there is a family history of the syndrome.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

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

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Hemolyzed blood sample
  • ●Insufficient DNA quantity
  • ●Recent blood transfusions

Compare With Similar Tests

TestBRAF Gene LEOPARD syndrome type 3 NGS Genetic TestPTPN11 Gene LEOPARD Syndrome TestRAF1 Gene LEOPARD Syndrome TestBRAF V600E Mutation TestNoonan Syndrome Genetic Panel
ComparisonBRAF Gene LEOPARD syndrome type 3 NGS Genetic Test

Frequently Asked Questions

What is LEOPARD syndrome type 3?
LEOPARD syndrome type 3 is a genetic disorder caused by mutations in the BRAF gene, characterized by symptoms like skin lentigines, heart abnormalities, and developmental issues.
How is LEOPARD syndrome type 3 diagnosed?
Diagnosis involves genetic testing, such as the BRAF Gene LEOPARD syndrome type 3 NGS Genetic Test, to identify mutations in the BRAF gene.
What are the symptoms of LEOPARD syndrome type 3?
Symptoms include multiple dark skin spots, electrocardiographic abnormalities, widely spaced eyes, pulmonary stenosis, abnormal genitalia, short stature, and deafness.
Is there an increased cancer risk with LEOPARD syndrome type 3?
Yes, individuals with type 3 may have a higher risk of developing certain cancers, such as thyroid cancer.
What is the cost of the BRAF Gene LEOPARD syndrome type 3 NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
Who should consider this test?
Individuals with symptoms of LEOPARD syndrome, a family history of the condition, or those seeking genetic diagnosis should consider this test.
What does a positive result mean?
A positive result confirms the presence of a BRAF gene mutation, indicating LEOPARD syndrome type 3, and guides clinical management.
Is genetic counseling provided with the test?
Yes, genetic counseling is recommended and available to help interpret results and plan next steps.
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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