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ZIC1 Gene Craniosynostosis type 6 NGS Genetic Test

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ZIC1 Gene Craniosynostosis type 6 NGS Genetic Test

Short Name: ZIC1 Craniosynostosis Type 6 Test

Also known as: Craniosynostosis Type 6, ZIC1-related craniosynostosis, Autosomal dominant craniosynostosis type 6

ZIC1 Gene Craniosynostosis type 6 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.

PediatricsInfants🏠 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 the ZIC1 Gene Craniosynostosis Type 6 NGS Genetic Test is to accurately diagnose Craniosynostosis Type 6 by detecting mutations in the ZIC1 gene. This helps in confirming the genetic basis of the condition, guiding clinical management, assessing recurrence risks for family members, and facilitating early intervention to prevent complications such as increased intracranial pressure and developmental delays.

Test Code
2712
ICD Code
Q75.0
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

Obtain detailed clinical history of the patient and conduct a genetic counseling session to draw a pedigree chart of family members affected with craniosynostosis. Ensure informed consent is signed.

Method: Venipuncture

Step 2

Laboratory Analysis

Collect blood sample via venipuncture using sterile technique. For FTA card, apply one drop of blood and allow to dry. Label samples accurately with patient details.

Step 3

Report Delivery

Transport samples to the laboratory at ambient room temperature. Ensure proper documentation and chain of custody for sample integrity.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Before the test, provide a detailed clinical history and undergo genetic counseling to understand the implications of testing. No fasting is required.
2
During the Test:The test involves a simple blood draw or DNA sample collection. The process is minimally invasive and typically takes a few minutes.
3
After the Test:After sample collection, await results for 3 to 4 weeks. Genetic counseling is recommended post-test to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of the ZIC1 Gene Craniosynostosis Type 6 NGS Genetic Test is to accurately diagnose Craniosynostosis Type 6 by detecting mutations in the ZIC1 gene. This helps in confirming the genetic basis of the condition, guiding clinical management, assessing recurrence risks for family members, and facilitating early intervention to prevent complications such as increased intracranial pressure and developmental delays.

How to Prepare

  • Use EDTA tubes for blood samples to prevent clotting
  • Avoid hemolysis by gentle mixing and proper handling
  • For FTA cards, ensure blood is fully dried before packaging
  • Include completed requisition form with clinical details

Doctor's Notes

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

"Early genetic diagnosis of craniosynostosis type 6 through NGS testing is crucial for timely intervention, which can prevent complications like increased intracranial pressure and improve developmental outcomes in affected infants."

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 for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood in EDTA tube
Extracted DNA
FTA card
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or missing patient information
  • Samples collected in incorrect containers

Understanding Your Results

Results from the ZIC1 Gene Craniosynostosis Type 6 NGS Genetic Test should be interpreted by a clinical geneticist or healthcare provider. A positive result indicates the presence of a pathogenic variant in the ZIC1 gene, confirming a diagnosis of Craniosynostosis Type 6. Negative results suggest no detectable mutations, but do not completely exclude the condition if clinical suspicion remains high.
📊

Confirms diagnosis of Craniosynostosis Type 6. Genetic counseling and clinical management are recommended.

Result type: Positive (Pathogenic Variant)

📊

No mutations detected in ZIC1 gene. Consider other genetic or non-genetic causes if symptoms persist.

Result type: Negative (No Pathogenic Variants)

📊

A genetic change with unknown clinical significance. Further testing or family studies may be needed for clarification.

Result type: Variant of Uncertain Significance (VUS)

⚠️ When to Consult a Doctor:

Consult a doctor or genetic specialist immediately if your child shows symptoms such as abnormal head shape, rapid head growth, developmental delays, or seizures. Early consultation is crucial for timely diagnosis and intervention.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions/duplications if not covered by NGS panel)
  • ⚠Results require interpretation by a qualified geneticist or clinician
  • ⚠Does not rule out other genetic causes of craniosynostosis
  • ⚠Variants of uncertain significance may require further family studies or functional analysis

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
  • ●Psychological impact of genetic results, addressed through counseling
  • ●No significant physical risks associated with the genetic test itself

Interfering Factors

  • ●Poor sample quality (e.g., hemolyzed or degraded DNA)
  • ●Contamination during sample collection or processing
  • ●Insufficient sample volume
  • ●Recent blood transfusions may affect DNA analysis

Frequently Asked Questions

What is the ZIC1 Gene Craniosynostosis Type 6 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the ZIC1 gene, which cause Craniosynostosis Type 6, a rare condition affecting skull development in infants.
How much does the test cost in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across many cities.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
No, this test is generally not covered by insurance and may need to be paid out of pocket.
What are the common symptoms of Craniosynostosis Type 6?
Symptoms include abnormal head shape, premature skull suture closure, increased intracranial pressure, developmental delays, vision or hearing problems, and seizures.
How is the test performed?
The test involves collecting a blood sample, which is then analyzed using NGS technology to sequence the ZIC1 gene for mutations.
What does a positive test result mean?
A positive result confirms a diagnosis of Craniosynostosis Type 6 due to a pathogenic variant in the ZIC1 gene, guiding further medical management.
Are there any risks associated with the test?
The test has minimal risks, primarily related to blood draw, such as slight pain or bruising. Genetic counseling is provided to address psychological aspects.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What is the accuracy of the NGS genetic test?
NGS technology provides high accuracy for detecting genetic variants, but results should be interpreted by a qualified geneticist in the context of clinical findings.
Who should consider getting this test?
Infants with symptoms of craniosynostosis, such as abnormal head shape or developmental delays, or those with a family history of the condition, should consider this test.
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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