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HRAS Gene Costello syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

HRAS Gene Costello syndrome NGS Genetic Test

Short Name: HRAS Gene Test

Also known as: Costello Syndrome Genetic Test, HRAS Mutation Analysis, RASopathy Genetic Test

HRAS Gene Costello syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, 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

🩺 Medically Reviewed By

Overview

The purpose of the HRAS Gene Costello Syndrome NGS Genetic Test is to identify pathogenic mutations in the HRAS gene that cause Costello syndrome. This test aids in definitive diagnosis, differential diagnosis from other RASopathies, and informs clinical management, including surveillance for cancer and cardiac issues. It also supports genetic counseling for recurrence risk assessment in families.

Test Code
5733
Price
₹20,000
Sample Type
Blood, 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 family members affected with Costello syndrome or related conditions.

Method: Venipuncture for blood samples

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture, or an extracted DNA sample or FTA card with one drop of blood can be used.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store the sample as per instructions and transport to the lab promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss the implications of testing. Provide detailed clinical and family history.
2
During the Test:The test involves NGS analysis of the HRAS gene from a blood or DNA sample. No special procedures are required during testing.
3
After the Test:Results will be available in 3 to 4 weeks. Follow up with a healthcare provider to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of the HRAS Gene Costello Syndrome NGS Genetic Test is to identify pathogenic mutations in the HRAS gene that cause Costello syndrome. This test aids in definitive diagnosis, differential diagnosis from other RASopathies, and informs clinical management, including surveillance for cancer and cardiac issues. It also supports genetic counseling for recurrence risk assessment in families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection tubes
  • Label samples accurately with patient details
  • Follow standard phlebotomy procedures

Doctor's Notes

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

"Early genetic diagnosis of Costello syndrome allows for timely intervention and management of associated health risks. Genetic counseling is recommended for affected families to understand inheritance patterns and recurrence risks."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodVenipuncture for blood samples

Sample Stability

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

Understanding Your Results

Results from the HRAS Gene Costello Syndrome NGS Genetic Test indicate the presence or absence of pathogenic mutations in the HRAS gene. A positive result confirms Costello syndrome, while a negative result may rule it out, though clinical correlation is essential.
📊

Positive for pathogenic HRAS mutation

Confirms diagnosis of Costello syndrome. Recommend clinical management, cancer surveillance, and genetic counseling.

📊

Negative for pathogenic HRAS mutation

Costello syndrome is unlikely, but consider other genetic disorders if symptoms persist. Further testing may be needed.

📊

Variant of uncertain significance (VUS)

A genetic variant was found, but its clinical significance is unknown. Repeat testing or family studies may be recommended.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if the test is positive, if symptoms of Costello syndrome are present, or if there is a family history of the disorder. Also, seek advice for management of associated health issues.

Limitations

  • May not detect all types of HRAS mutations, such as large deletions or duplications
  • Variants of uncertain significance (VUS) may be identified, requiring further evaluation
  • Does not rule out other genetic disorders with overlapping symptoms

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of genetic results may require counseling

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Recent blood transfusions may affect results

Frequently Asked Questions

What is Costello syndrome?
Costello syndrome is a rare genetic disorder caused by mutations in the HRAS gene, leading to developmental delays, distinctive facial features, loose skin, heart problems, and increased cancer risk.
How is Costello syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the HRAS Gene NGS Test, along with clinical evaluation of symptoms and family history.
What does the HRAS Gene NGS Test involve?
The test uses Next-Generation Sequencing to analyze the HRAS gene for mutations from a blood or DNA sample, providing detailed genetic information.
Who should consider this test?
Individuals with symptoms of Costello syndrome, such as delayed development, distinctive facial features, or heart abnormalities, and those with a family history of the disorder.
What is the cost of the test?
The test costs INR 20,000, which includes home sample collection and a clinical report.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What if the test result is positive?
A positive result confirms Costello syndrome. Consult a healthcare provider for management plans, including cancer surveillance and cardiac monitoring.
Can the test rule out Costello syndrome?
A negative result makes Costello syndrome unlikely, but other genetic conditions may need to be considered if symptoms persist.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have psychological impacts, so counseling is advised.
What is the significance of raw data and VCF files?
DNA Labs India provides raw data, FASTQ, and VCF files for transparency, allowing for further analysis or second opinions.
How can I prepare for the test?
No fasting is required. Provide clinical history and undergo genetic counseling before testing to understand the process and implications.
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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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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