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WNT5A Gene Robinow syndrome, autosomal dominant type 1 NGS Genetic Test

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WNT5A Gene Robinow syndrome, autosomal dominant type 1 NGS Genetic Test

Short Name: WNT5A Robinow Syndrome NGS Test

Also known as: Robinow Syndrome Type 1, WNT5A-Related Robinow Syndrome, Autosomal Dominant Robinow Syndrome

WNT5A Gene Robinow syndrome, autosomal dominant 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.

NGS Genetic TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the WNT5A gene to confirm a diagnosis of Robinow syndrome, autosomal dominant type 1, enabling early intervention, personalized management, and genetic counseling for patients and their families.

Test Code
2790
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

No specific preparation is required. Ensure genetic counseling is scheduled to discuss test implications and family history.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a finger prick for FTA card collection. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately. Store FTA card samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test purpose, implications, and family history. No fasting required.
2
During the Test:Blood sample collection via venipuncture or finger prick. The procedure takes about 10-15 minutes.
3
After the Test:Sample sent to the lab for NGS analysis. Results available in 3-4 weeks. Follow-up counseling recommended.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the WNT5A gene to confirm a diagnosis of Robinow syndrome, autosomal dominant type 1, enabling early intervention, personalized management, and genetic counseling for patients and their families.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • For FTA card, apply one drop of blood and air-dry completely
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Genetic testing is crucial for early diagnosis and management of Robinow syndrome, allowing for timely interventions and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood or equivalent
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at 2-8°C for up to 7 days
FTA card samples stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples stored incorrectly

Understanding Your Results

Results indicate whether pathogenic mutations in the WNT5A gene are detected. A positive result confirms Robinow syndrome, autosomal dominant type 1, while a negative result may require further testing if clinical suspicion remains high.
📊

Pathogenic variant detected

Confirms diagnosis of Robinow syndrome, autosomal dominant type 1. Genetic counseling and multidisciplinary management recommended.

📊

No pathogenic variant detected

Robinow syndrome due to WNT5A mutations unlikely. Consider other genetic tests or clinical evaluation.

📊

Variant of uncertain significance (VUS)

Further analysis and family studies may be needed. Consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if you or your child exhibits symptoms such as short stature, facial abnormalities, or skeletal issues, or if there is a family history of Robinow syndrome. Genetic counseling is advised before and after testing.

Limitations

  • May not detect all types of mutations, such as large deletions or duplications
  • Results require interpretation by a genetic counselor or specialist
  • Does not rule out other genetic conditions with overlapping symptoms
  • Limited to known pathogenic variants in the WNT5A gene

Risks & Considerations

  • Minor pain or bruising at the blood draw site
  • Very low risk of infection
  • Emotional impact of genetic results; counseling provided

Interfering Factors

  • Poor sample quality or insufficient DNA
  • Contamination during sample collection or processing
  • Hemolyzed or lipemic blood samples
  • Recent blood transfusions may affect DNA analysis

Compare With Similar Tests

TestWNT5A Gene Robinow syndrome, autosomal dominant type 1 NGS Genetic TestSanger Sequencing for WNT5AWhole Exome Sequencing (WES)Skeletal Dysplasia Gene PanelChromosomal Microarray (CMA)
ComparisonWNT5A Gene Robinow syndrome, autosomal dominant type 1 NGS Genetic Test

Frequently Asked Questions

What is Robinow syndrome, autosomal dominant type 1?
It is a rare genetic disorder caused by mutations in the WNT5A gene, leading to skeletal abnormalities, facial features, and other developmental issues.
How is the WNT5A Gene Robinow Syndrome NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the WNT5A gene from a blood or DNA sample for mutations.
What is the cost of this test at DNA Labs India?
The test costs INR 20,000, which includes sample collection, analysis, and report delivery.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the common symptoms of Robinow syndrome?
Symptoms include short stature, abnormal facial features, short fingers and toes, spinal abnormalities, delayed bone age, and intellectual disability.
Is the test covered by insurance?
Coverage varies by insurance provider; it is recommended to check with your insurer for eligibility.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How accurate is the NGS Genetic Test for Robinow syndrome?
NGS technology provides high accuracy in detecting mutations in the WNT5A gene, but results should be interpreted by a genetic specialist.
What happens if a mutation is detected?
A positive result confirms the diagnosis, and genetic counseling will guide management, including medical interventions and family planning.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible through chorionic villus sampling or amniocentesis, but consultation with a genetic counselor is essential.
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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Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

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