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DVL1 Gene Robinow syndrome, autosomal dominant type 2 NGS Genetic Test

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DVL1 Gene Robinow syndrome, autosomal dominant type 2 NGS Genetic Test

Short Name: DVL1 Robinow Syndrome Test

Also known as: Robinow Syndrome Type 2, DVL1-Related Robinow Syndrome

DVL1 Gene Robinow syndrome, autosomal dominant type 2 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 from sample receipt. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestPediatric🏠 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 autosomal dominant type 2 Robinow syndrome by detecting mutations in the DVL1 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
2789
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture or cheek swab

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or cheek swab by a trained professional.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample will be sent to the laboratory for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss the implications, benefits, and limitations of the test.
2
During the Test:Sample processing and NGS analysis are performed in the laboratory by skilled technicians.
3
After the Test:Results are reviewed by a geneticist, and a detailed report is generated for the patient and physician.

About This Test

Who Should Get This Test

To diagnose autosomal dominant type 2 Robinow syndrome by detecting mutations in the DVL1 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details

Doctor's Notes

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

"Genetic testing for Robinow syndrome is crucial for early diagnosis and management. Consult a genetic counselor for family planning and understanding inheritance patterns."

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 or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or cheek swab

Sample Stability

Blood: 24-48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DVL1 gene, which are associated with autosomal dominant type 2 Robinow syndrome.
📊

Pathogenic variant detected

Confirms diagnosis of autosomal dominant type 2 Robinow syndrome. Genetic counseling recommended for family planning.

📊

No pathogenic variant detected

Does not rule out other genetic causes; clinical correlation and further testing may be needed.

⚠️ When to Consult a Doctor:

If symptoms of Robinow syndrome are present, or if there is a family history of genetic disorders, consult a geneticist or pediatrician for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a substitute for clinical diagnosis

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of test results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Compare With Similar Tests

TestDVL1 Gene Robinow syndrome, autosomal dominant type 2 NGS Genetic TestWhole Exome SequencingSanger Sequencing for DVL1KaryotypingMicroarray Analysis
ComparisonDVL1 Gene Robinow syndrome, autosomal dominant type 2 NGS Genetic Test

Frequently Asked Questions

What is DVL1 Gene Robinow Syndrome?
DVL1 Gene Robinow Syndrome is a rare genetic disorder caused by mutations in the DVL1 gene, leading to skeletal abnormalities, facial features, and short stature.
What are the symptoms of Autosomal Dominant Type 2 Robinow Syndrome?
Symptoms include short stature, broad nasal bridge, small jaw, prominent forehead, shortened fingers and toes, spinal curvature, heart defects, and intellectual disability.
How is Robinow Syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS analysis of the DVL1 gene, along with clinical evaluation.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is a advanced technology that sequences DNA to detect genetic mutations accurately and efficiently.
What sample is required for the test?
A blood sample, extracted DNA, or a cheek swab can be used for testing.
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 India.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, testing, and report delivery.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to understand the results and implications.
Can the test detect all mutations?
The test is designed to detect pathogenic variants in the DVL1 gene, but it may not identify all possible mutations.
What should I do if the test is positive?
If positive, consult a geneticist for management options, family planning, and support.
Is the test covered by insurance?
Coverage varies by insurance plan; contact your provider for details. DNA Labs India offers affordable pricing.
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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