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DNA Labs India

SIX3 Gene Holoprosencephaly type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SIX3 Gene Holoprosencephaly type 2 NGS Genetic Test

Short Name: SIX3 HPE2 NGS Test

Also known as: HPE2 Genetic Test, SIX3 Mutation Analysis, Holoprosencephaly Type 2 Genetic Test

SIX3 Gene Holoprosencephaly type 2 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 and Prenatal🏠 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 SIX3 Gene Holoprosencephaly Type 2 NGS Genetic Test is to identify mutations in the SIX3 gene that cause Holoprosencephaly type 2. This helps in confirming diagnosis, assessing recurrence risk, guiding treatment decisions, and facilitating genetic counseling for affected families.

Test Code
5781
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 special preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture or Blood Drop on FTA Card

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or a blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a pedigree chart.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Report generation and delivery, followed by genetic counseling to discuss results.

About This Test

Who Should Get This Test

The purpose of the SIX3 Gene Holoprosencephaly Type 2 NGS Genetic Test is to identify mutations in the SIX3 gene that cause Holoprosencephaly type 2. This helps in confirming diagnosis, assessing recurrence risk, guiding treatment decisions, and facilitating genetic counseling for affected families.

How to Prepare

  • Ensure patient is relaxed
  • Use sterile equipment
  • Label sample correctly
  • Transport sample at ambient temperature

Doctor's Notes

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

"Genetic testing for SIX3 mutations is crucial for early diagnosis and intervention in holoprosencephaly, aiding in prenatal counseling and postnatal care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or Blood Drop on FTA Card

Sample Stability

Room Temperature48 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Contaminated sample

Understanding Your Results

Results from the SIX3 Gene Holoprosencephaly Type 2 NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
📊

No mutation detected

Low risk for SIX3-related holoprosencephaly, but clinical correlation recommended.

📊

Pathogenic variant detected

Confirms diagnosis of Holoprosencephaly type 2 due to SIX3 mutation. Genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric neurologist if the test is positive or if there are clinical signs of holoprosencephaly.

Limitations

  • ⚠May not detect all types of mutations in SIX3 gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is the SIX3 Gene Holoprosencephaly Type 2 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the SIX3 gene, which are associated with Holoprosencephaly type 2, a rare brain development disorder.
Who should take this test?
Individuals with a family history of holoprosencephaly, prenatal ultrasound abnormalities, or symptoms like facial anomalies, developmental delays, or seizures should consider this test.
How is the test performed?
The test involves collecting a blood sample or extracted DNA, which is then analyzed using NGS technology to identify SIX3 gene mutations.
What is the cost of the test?
The cost at DNA Labs India is INR 20,000, which includes home sample collection and a detailed report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate whether a pathogenic variant in the SIX3 gene is detected. A positive result confirms diagnosis, while a negative result suggests low risk but requires clinical correlation.
Is the test covered by insurance?
Coverage depends on your insurance plan. It is not typically covered under government schemes like PMJAY or CGHS, but check with your provider.
Can the test be done during pregnancy?
Yes, the test can be performed prenatally using fetal DNA from maternal blood or other samples, under medical guidance.
What are the symptoms of Holoprosencephaly?
Symptoms include facial abnormalities (e.g., single central incisor, cyclopean eye), microcephaly, cognitive delays, seizures, feeding difficulties, and intellectual disability.
How accurate is the test?
The test uses NGS technology, which is highly accurate for detecting SIX3 gene mutations, but results should be interpreted with clinical findings.
What should I do after receiving the results?
Consult a geneticist or healthcare provider for genetic counseling, discuss management options, and consider family screening if applicable.
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

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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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