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DNA Labs India

DISP1 Gene Craniofacial and neuro-developmental abnormalities NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DISP1 Gene Craniofacial and neuro-developmental abnormalities NGS Genetic Test

Short Name: DISP1 Gene NGS Test

Also known as: DISP1 Mutation Test, Holoprosencephaly Genetic Test

DISP1 Gene Craniofacial and neuro-developmental abnormalities 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.

PediatricsPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the DISP1 gene that cause craniofacial and neuro-developmental abnormalities, aiding in the diagnosis of holoprosencephaly.

Test Code
5737
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 family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation required. Provide clinical history and family pedigree.
2
During the Test:Blood sample will be collected via venipuncture by a trained phlebotomist.
3
After the Test:Apply pressure to the puncture site to prevent bruising. Resume normal activities.

About This Test

Who Should Get This Test

To detect mutations in the DISP1 gene that cause craniofacial and neuro-developmental abnormalities, aiding in the diagnosis of holoprosencephaly.

How to Prepare

  • Fast for 8-10 hours if specified, but not required for this test
  • Bring identification and prescription
  • Inform about any medications

Doctor's Notes

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

"Early genetic testing for DISP1 mutations can aid in timely intervention and family planning for conditions like holoprosencephaly."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood or as required
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 48 hours
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the DISP1 gene. Consult a geneticist for detailed interpretation.
Normal: No mutations detected, low risk for HPE
Variant of uncertain significance: Further testing may be needed
Pathogenic variant: High risk for craniofacial and neuro-developmental abnormalities
⚠️ When to Consult a Doctor:

If symptoms of craniofacial abnormalities, developmental delays, or family history of HPE are present.

Limitations

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

Risks & Considerations

  • Minor bruising at puncture site
  • Rare infection risk
  • Emotional impact of results

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Incorrect sample handling

Frequently Asked Questions

What is the DISP1 Gene NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the DISP1 gene for mutations associated with craniofacial and neuro-developmental abnormalities like holoprosencephaly.
Why is the DISP1 Gene test recommended?
It is recommended for individuals with symptoms of craniofacial abnormalities, developmental delays, or a family history of holoprosencephaly to identify genetic causes.
What are the symptoms of DISP1 gene mutations?
Symptoms include craniofacial abnormalities (e.g., small head, facial asymmetry), neuro-developmental delays, intellectual disability, heart defects, skeletal anomalies, and hearing loss.
How is the test performed?
The test involves collecting a blood sample, extracted DNA, or a drop of blood on an FTA card, which is then analyzed using NGS technology.
What is the cost of the test?
The cost is INR 20,000, which includes the test, genetic counseling, and report delivery.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do abnormal results mean?
Abnormal results indicate the presence of pathogenic variants in the DISP1 gene, suggesting a higher risk for craniofacial and neuro-developmental abnormalities. Consult a geneticist for interpretation.
Is genetic counseling included in the test?
Yes, genetic counseling is included to help interpret results and provide support.
Who should consider taking this test?
Individuals with symptoms of craniofacial abnormalities, developmental delays, or a family history of holoprosencephaly should consider this test.
Are there any risks associated with the test?
Risks are minimal and include minor bruising at the puncture site, rare infection, and potential emotional impact of results.
How should I prepare for the test?
No special preparation is required. Provide your clinical history and family pedigree, and bring identification and prescription if available.
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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