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ESCO2 Gene Roberts syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ESCO2 Gene Roberts syndrome NGS Genetic Test

Short Name: Roberts Syndrome NGS Test

Also known as: Pseudothalidomide Syndrome

ESCO2 Gene Roberts syndrome 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.

Pediatrics🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the ESCO2 Gene Roberts Syndrome NGS Genetic Test is to confirm the diagnosis of Roberts Syndrome by identifying mutations in the ESCO2 gene using Next-Generation Sequencing. It aids in genetic counseling, family planning, and management of the disorder.

Test Code
2788
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. Ensure clinical history and genetic counseling session are completed.

Method: Blood Draw

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist. For FTA card, a drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before testing.
2
During the Test:The test involves DNA extraction from the blood sample, sequencing using NGS technology, and data analysis to identify ESCO2 gene mutations.
3
After the Test:Results are interpreted by a genetic counselor and delivered within 3 to 4 weeks. Follow-up consultation is advised.

About This Test

Who Should Get This Test

The purpose of the ESCO2 Gene Roberts Syndrome NGS Genetic Test is to confirm the diagnosis of Roberts Syndrome by identifying mutations in the ESCO2 gene using Next-Generation Sequencing. It aids in genetic counseling, family planning, and management of the disorder.

How to Prepare

  • Use sterile equipment for blood collection
  • Label sample correctly with patient details
  • Transport sample at ambient room temperature
  • For FTA card, allow blood to dry completely before packaging

Doctor's Notes

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

"Early genetic testing for Roberts Syndrome can guide management and family planning. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for several days if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results from the ESCO2 Gene Roberts Syndrome NGS Genetic Test should be interpreted by a qualified genetic counselor or healthcare provider. Positive results indicate the presence of pathogenic mutations in the ESCO2 gene, confirming Roberts Syndrome.
Positive Result: Pathogenic mutation detected, confirming diagnosis. Genetic counseling recommended for family planning.
Negative Result: No pathogenic mutation detected. Clinical correlation advised if symptoms persist.
Variant of Uncertain Significance (VUS): Further testing or family studies may be needed.
Report includes detailed mutation analysis and clinical implications.
⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if test results are positive, if there is a family history of Roberts Syndrome, or if symptoms suggestive of the disorder are present.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
  • ⚠Results require clinical correlation for accurate diagnosis
  • ⚠Does not rule out other genetic disorders with similar symptoms

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling support available

Interfering Factors

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

Frequently Asked Questions

What is Roberts Syndrome?
Roberts Syndrome is a rare genetic disorder characterized by limb abnormalities, craniofacial defects, and growth retardation, caused by mutations in the ESCO2 gene.
What causes Roberts Syndrome?
Roberts Syndrome is caused by mutations in the ESCO2 gene, which is essential for proper chromosome segregation during cell division.
What are the symptoms of Roberts Syndrome?
Symptoms include shortened limbs, missing or extra fingers/toes, cleft palate, widely spaced eyes, small head, and potential heart or kidney abnormalities.
How is Roberts Syndrome diagnosed?
Diagnosis is based on clinical presentation and confirmed through genetic testing, such as the ESCO2 Gene NGS Test, to identify mutations.
What is the ESCO2 gene?
The ESCO2 gene encodes a protein critical for chromosome cohesion during cell division. Mutations in this gene lead to Roberts Syndrome.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a high-throughput technology that sequences DNA to accurately identify genetic mutations, such as those in the ESCO2 gene.
How is the ESCO2 Gene Roberts Syndrome NGS Genetic Test performed?
The test involves collecting a blood sample, isolating DNA, sequencing it using NGS, and analyzing the data for ESCO2 gene mutations.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How can I interpret the test results?
Results should be interpreted by a qualified genetic counselor. Positive results confirm Roberts Syndrome, while negative results may require further clinical evaluation.
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.

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✓ 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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