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TWIST1 Gene Robinow-Sorauf syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TWIST1 Gene Robinow-Sorauf syndrome NGS Genetic Test

Short Name: TWIST1 Robinow-Sorauf Test

Also known as: TWIST1 Gene Test, Robinow-Sorauf Syndrome Genetic Test, TWIST1 Mutation Analysis

TWIST1 Gene Robinow-Sorauf 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.

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 identify mutations in the TWIST1 gene for the diagnosis of Robinow-Sorauf Syndrome, enabling appropriate medical management and genetic counseling.

Test Code
2805
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

Genetic counseling session recommended. Provide clinical history and family pedigree.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick.

Step 3

Report Delivery

Sample sent to laboratory for analysis. Results available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test and implications.
2
During the Test:Sample collection takes about 15-30 minutes.
3
After the Test:Wait for results and follow up with healthcare provider.

About This Test

Who Should Get This Test

To identify mutations in the TWIST1 gene for the diagnosis of Robinow-Sorauf Syndrome, enabling appropriate medical management and genetic counseling.

How to Prepare

  • Fast not required
  • Bring identification and prescription
  • Inform about any medications

Doctor's Notes

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

"Early genetic diagnosis of Robinow-Sorauf Syndrome allows for timely intervention and genetic counseling, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

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
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TWIST1 gene.
Positive: Pathogenic variant detected, consistent with Robinow-Sorauf Syndrome
Negative: No pathogenic variants detected, but clinical correlation needed
Variant of unknown significance: Further testing or family studies may be required
⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician upon receiving results for appropriate management and counseling.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Variants of unknown significance may be identified
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Psychological impact of results
  • ●Potential for uncertain results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

TestTWIST1 Gene Robinow-Sorauf syndrome NGS Genetic TestTWIST1 Gene Sanger Sequencing
ComparisonTWIST1 Gene Robinow-Sorauf syndrome NGS Genetic Test

Frequently Asked Questions

What is Robinow-Sorauf Syndrome?
Robinow-Sorauf Syndrome is a rare genetic disorder characterized by short stature, facial abnormalities, and skeletal anomalies, caused by mutations in the TWIST1 gene.
What causes Robinow-Sorauf Syndrome?
It is caused by mutations in the TWIST1 gene, which is involved in the development of tissues and organs.
How is the TWIST1 Gene Test performed?
The test uses Next Generation Sequencing (NGS) to analyze the TWIST1 gene for mutations from a blood or DNA sample.
What is the cost of the TWIST1 Gene Robinow-Sorauf Syndrome Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across numerous 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 symptoms of Robinow-Sorauf Syndrome?
Symptoms include short stature, distinctive facial features, skeletal abnormalities, and other developmental issues.
Is the genetic test covered by insurance?
Coverage depends on your insurance plan. Please check with your provider. DNA Labs India offers affordable pricing.
What is NGS technology?
Next Generation Sequencing (NGS) is an advanced genetic testing method that allows for rapid and accurate sequencing of genes.
How accurate is the TWIST1 Gene Test?
The test is highly accurate with NABL accreditation and ISO certification, but no test is 100% foolproof.
Can the test be done on children?
Yes, the test is suitable for pediatric patients, and it is often recommended for children with suspected genetic conditions.
What should I do after receiving the test results?
Consult a geneticist or healthcare provider to understand the results and discuss management options.
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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