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ARHGAP31 Gene Adams-Oliver syndrome type 1 NGS Genetic Test

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ARHGAP31 Gene Adams-Oliver syndrome type 1 NGS Genetic Test

Also known as: ARHGAP31 Gene Test for Adams-Oliver Syndrome, AOS Type 1 Genetic Test

ARHGAP31 Gene Adams-Oliver syndrome type 1 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 (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Adams-Oliver Syndrome Type 1 by identifying mutations in the ARHGAP31 gene using next-generation sequencing technology.

Test Code
4814
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 patient and genetic counseling session to draw a pedigree chart of family members affected with Adams-Oliver Syndrome.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

Sample is processed and DNA is extracted for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation recommended.
2
During the Test:Blood sample collection and DNA extraction.
3
After the Test:NGS analysis and report generation.

About This Test

Who Should Get This Test

To diagnose Adams-Oliver Syndrome Type 1 by identifying mutations in the ARHGAP31 gene using next-generation sequencing technology.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile equipment
  • Label sample correctly

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ARHGAP31 gene associated with Adams-Oliver Syndrome Type 1.
📊

Pathogenic variant detected

Confirms diagnosis of Adams-Oliver Syndrome Type 1

📊

No pathogenic variant detected

Reduces likelihood of ARHGAP31-related Adams-Oliver Syndrome, but clinical correlation is needed

⚠️ When to Consult a Doctor:

If symptoms of Adams-Oliver Syndrome are present or if there is a family history of the disorder.

Limitations

  • May not detect all types of mutations
  • Results require genetic counseling for interpretation
  • Does not rule out other genetic disorders

Risks & Considerations

  • Minor bruising at blood draw site
  • Rare risk of infection

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Hemolyzed blood sample

Frequently Asked Questions

What is Adams-Oliver Syndrome Type 1?
Adams-Oliver Syndrome Type 1 is a rare genetic disorder caused by mutations in the ARHGAP31 gene, leading to developmental abnormalities in the limbs, scalp, and skull.
What causes Adams-Oliver Syndrome Type 1?
It is caused by mutations in the ARHGAP31 gene, which affects cell growth and development.
What are the symptoms of Adams-Oliver Syndrome Type 1?
Symptoms include missing or underdeveloped fingers/toes, scalp defects, skull defects, heart defects, blood vessel abnormalities, developmental delays, and intellectual disability.
How is Adams-Oliver Syndrome Type 1 diagnosed?
Diagnosis involves physical examination, medical history, and genetic testing such as NGS to identify ARHGAP31 gene mutations.
What is the ARHGAP31 gene?
The ARHGAP31 gene provides instructions for making a protein involved in cell signaling and development, and mutations can lead to Adams-Oliver Syndrome Type 1.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a technology that rapidly sequences DNA to detect genetic mutations, used here to analyze the ARHGAP31 gene.
How much does the ARHGAP31 Gene Adams-Oliver Syndrome Type 1 NGS Genetic Test cost?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do the test results mean?
Results indicate if pathogenic mutations in the ARHGAP31 gene are detected, confirming diagnosis, or not detected, requiring clinical correlation.
Is genetic counseling provided?
Yes, genetic counseling is available to help understand results and make informed decisions.
Who should consider this test?
Individuals with symptoms of Adams-Oliver Syndrome or a family history of the disorder should consider this test.
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.

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