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ZIC2 Gene Holoprosencephaly type 5 NGS Genetic Test

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ZIC2 Gene Holoprosencephaly type 5 NGS Genetic Test

Short Name: ZIC2 HPE5 NGS Test

Also known as: ZIC2 mutation test, Holoprosencephaly Type 5 genetic test, ZIC2 gene sequencing

ZIC2 Gene Holoprosencephaly type 5 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

The purpose of this test is to detect pathogenic variants in the ZIC2 gene to confirm a diagnosis of Holoprosencephaly Type 5, guide clinical management, and facilitate genetic counselling for affected families.

Test Code
5782
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

Clinical history of the patient and a genetic counselling session to draw a pedigree chart of family members affected with Holoprosencephaly Type 5.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure; ensure proper labeling and handling of sample.

Step 3

Report Delivery

Sample is sent to the lab for analysis; results are available in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counselling and clinical history assessment are required before testing.
2
During the Test:Blood sample collection via venipuncture; minimal discomfort.
3
After the Test:Monitor for any rare side effects like bruising; await results in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the ZIC2 gene to confirm a diagnosis of Holoprosencephaly Type 5, guide clinical management, and facilitate genetic counselling for affected families.

How to Prepare

  • Provide detailed clinical history of the patient
  • Undergo genetic counselling to assess family history
  • Ensure sample is collected in a sterile environment
  • Use appropriate collection tubes (EDTA or FTA card)

Doctor's Notes

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

"Early genetic diagnosis through ZIC2 gene testing is crucial for managing Holoprosencephaly Type 5, guiding treatment, and informing family planning."

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

Sample Stability

Blood samples: stable at room temperature for 24 hours
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ZIC2 gene. A positive result confirms a diagnosis of Holoprosencephaly Type 5, while a negative result may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of Holoprosencephaly Type 5; genetic counselling recommended.

📊

No pathogenic variant detected

ZIC2 gene mutations not found; consider other genetic or clinical causes.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms such as facial abnormalities, seizures, or developmental delays are present, or if family history suggests risk.

Limitations

  • ⚠This test may not detect all possible mutations in the ZIC2 gene
  • ⚠Results should be interpreted in conjunction with clinical findings
  • ⚠Genetic counselling is recommended for understanding implications

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

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 the ZIC2 Gene Holoprosencephaly Type 5 NGS Genetic Test?
This test analyzes the ZIC2 gene for mutations causing Holoprosencephaly Type 5, a brain development disorder, using Next Generation Sequencing technology.
Who should consider getting this test?
Individuals with symptoms like facial abnormalities, intellectual disability, seizures, or a family history of holoprosencephaly should consider this test.
What are the common symptoms of Holoprosencephaly Type 5?
Symptoms include facial abnormalities, intellectual disability, seizures, muscle stiffness, and mental retardation, varying from mild to severe.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS to detect mutations in the ZIC2 gene.
What is the cost of the ZIC2 Gene Holoprosencephaly Type 5 NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show if pathogenic variants are present in the ZIC2 gene, confirming or ruling out Holoprosencephaly Type 5.
Are there any risks associated with this test?
Risks are minimal, such as minor bruising from blood draw, but genetic results may have emotional implications.
Can this test be used for prenatal diagnosis?
It may be used in high-risk pregnancies with family history, but consultation with a geneticist is recommended.
What is the accuracy of the ZIC2 Gene Holoprosencephaly Type 5 NGS Genetic Test?
NGS technology provides high accuracy, but results should be interpreted with clinical findings and genetic counselling.
How can I book the ZIC2 Gene Holoprosencephaly Type 5 NGS Genetic Test?
You can book online through DNA Labs India's website or contact their customer support for assistance.
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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