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ROR2 Gene Robinow syndrome, autosomal recessive NGS Genetic Test

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ROR2 Gene Robinow syndrome, autosomal recessive NGS Genetic Test

Short Name: ROR2 Gene Robinow Syndrome Test

Also known as: Robinow Syndrome Type 2, Autosomal Recessive Robinow Syndrome

ROR2 Gene Robinow syndrome, autosomal recessive 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.

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

The purpose of this test is to identify pathogenic mutations in the ROR2 gene to confirm a diagnosis of autosomal recessive Robinow Syndrome, facilitate genetic counseling, and inform clinical management and family planning.

Test Code
2795
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 required. Provide clinical history and family pedigree information.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or a drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. Genetic counseling is recommended prior to testing.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Review results with a healthcare provider. Genetic counseling for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the ROR2 gene to confirm a diagnosis of autosomal recessive Robinow Syndrome, facilitate genetic counseling, and inform clinical management and family planning.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples accurately with patient details

Doctor's Notes

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

"Early genetic diagnosis through NGS testing is essential for managing Robinow Syndrome and providing appropriate care for affected children."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ROR2 gene. Positive results confirm autosomal recessive Robinow Syndrome, while negative results may require further clinical evaluation.
Positive result: Pathogenic variant detected, confirming diagnosis. Genetic counseling recommended.
Negative result: No pathogenic variants found. Consider other genetic or clinical causes.
Variant of uncertain significance (VUS): Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if symptoms suggestive of Robinow Syndrome are present, or if there is a family history of the disorder. Discuss test results with a healthcare provider for appropriate management.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions)
  • ⚠Requires correlation with clinical findings and genetic counseling
  • ⚠Results may have variants of uncertain significance (VUS)

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Insufficient sample volume

Compare With Similar Tests

TestROR2 Gene Robinow syndrome, autosomal recessive NGS Genetic TestWhole Exome SequencingSanger SequencingChromosomal MicroarrayFISH Analysis
ComparisonROR2 Gene Robinow syndrome, autosomal recessive NGS Genetic Test

Frequently Asked Questions

What is Robinow Syndrome?
Robinow Syndrome is a rare genetic disorder affecting skeletal development, characterized by short stature, facial abnormalities, and other systemic issues.
How is Robinow Syndrome inherited?
It is inherited in an autosomal recessive pattern, requiring two mutated copies of the ROR2 gene from both parents.
What does the ROR2 Gene NGS Test detect?
This test identifies mutations in the ROR2 gene using next-generation sequencing to confirm autosomal recessive Robinow Syndrome.
What is the cost of this test in India?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
What sample is required for the test?
Blood, extracted DNA, or a drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is fasting required before the test?
No, fasting is not required.
What are the symptoms of Robinow Syndrome?
Common symptoms include short stature, broad forehead, flat nasal bridge, short fingers and toes, spinal abnormalities, and intellectual disability.
Can carriers of the mutation show symptoms?
Carriers with one mutated gene usually do not have the syndrome but can pass the mutation to offspring.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand results and inheritance risks.
What if the test result is negative?
A negative result means no pathogenic variants were detected in the ROR2 gene. Clinical evaluation may still be needed.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India shares raw data, FASTQ, and VCF files along with the clinical report for transparency.
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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