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TWIST1 Gene Craniosynostosis type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TWIST1 Gene Craniosynostosis type 1 NGS Genetic Test

Short Name: TWIST1 Craniosynostosis Test

Also known as: TWIST1 gene test, Craniosynostosis type 1 genetic test, TWIST1 mutation analysis

TWIST1 Gene Craniosynostosis type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses 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 diagnosis of craniosynostosis type 1, aiding in early intervention, management, and family genetic counseling.

Test Code
5739
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
NGS
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Step 2

Laboratory Analysis

Blood sample collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; store sample as per lab instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and obtain informed consent.
2
During the Test:Blood sample collection followed by DNA extraction and NGS analysis in the laboratory.
3
After the Test:Wait for report delivery (3-4 weeks), then review results with healthcare provider for next steps.

About This Test

Who Should Get This Test

To identify mutations in the TWIST1 gene for diagnosis of craniosynostosis type 1, aiding in early intervention, management, and family genetic counseling.

How to Prepare

  • Bring valid ID and doctor's prescription
  • Ensure sample is collected in a sterile environment
  • Label sample correctly with patient details
  • Transport sample at ambient room temperature

Doctor's Notes

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

"Early genetic testing for TWIST1 mutations can guide management, surgical planning, and family counseling for craniosynostosis type 1."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling or missing information
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the TWIST1 gene. Positive results confirm genetic basis for craniosynostosis type 1, while negative results may require further clinical evaluation.
Positive: Pathogenic variant detected – consult geneticist for management and family screening.
Negative: No mutation found – consider other genetic or non-genetic causes; clinical correlation advised.
Variant of uncertain significance (VUS): Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a geneticist or craniofacial specialist immediately if results are positive, or if symptoms persist despite negative results.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Limited to TWIST1 gene; other causes not assessed

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage
  • ●Recent blood transfusion

Compare With Similar Tests

TestTWIST1 Gene Craniosynostosis type 1 NGS Genetic TestFGFR2 Gene Craniosynostosis TestComprehensive Craniosynostosis PanelWhole Exome Sequencing
ComparisonTWIST1 Gene Craniosynostosis type 1 NGS Genetic Test

Frequently Asked Questions

What is the TWIST1 Gene Craniosynostosis type 1 NGS Genetic Test?
It is a genetic test using Next-Generation Sequencing to detect mutations in the TWIST1 gene, which causes craniosynostosis type 1, a condition where skull bones fuse prematurely.
Why is this test recommended?
It is recommended for infants with abnormal head shapes, family history of craniosynostosis, or symptoms like developmental delays, to confirm diagnosis and guide treatment.
What is the cost of the test in India?
The test costs INR 20000, with free home sample collection available across India.
How is the sample collected?
A blood sample is collected via venipuncture, or extracted DNA or a blood drop on FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results indicate?
Results show if a TWIST1 gene mutation is present. A positive result confirms genetic craniosynostosis type 1, while negative may require further evaluation.
Is the test covered by insurance?
Genetic testing may not always be covered by insurance; it is advisable to check with your provider beforehand.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, such as bruising. Genetic results may have psychological implications.
Can this test be done for adults?
The test is primarily for pediatric patients, but adults with symptoms or family history may consult a geneticist for suitability.
What should I do after receiving the results?
Consult a geneticist or craniofacial specialist to discuss results, management options, and family counseling.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India provides 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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