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ANO5 Gene Gnathodiaphyseal dysplasia NGS Genetic Test

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ANO5 Gene Gnathodiaphyseal dysplasia NGS Genetic Test

Short Name: ANO5 Gene Test

Also known as: Gnathodiaphyseal Dysplasia, ANO5-Related Disorder

ANO5 Gene Gnathodiaphyseal dysplasia 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.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Gnathodiaphyseal dysplasia by detecting pathogenic mutations in the ANO5 gene using next-generation sequencing technology.

Test Code
4942
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 and genetic counseling recommended.

Method: Venipuncture for blood, or FTA card for one drop blood

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card.

Step 3

Report Delivery

Sample sent to lab for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and counseling.

About This Test

Who Should Get This Test

To diagnose Gnathodiaphyseal dysplasia by detecting pathogenic mutations in the ANO5 gene using next-generation sequencing technology.

How to Prepare

  • Ensure proper sample labeling
  • Avoid hemolysis for blood samples

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood, or FTA card for one drop blood

Sample Stability

Blood: 2-8°C for 24 hours
FTA card: Room temperature stable
Sample Rejection Criteria:
  • Insufficient sample
  • Contaminated sample

Understanding Your Results

Results indicate presence or absence of pathogenic mutations in ANO5 gene.
📊

Positive

Pathogenic variant detected, consistent with Gnathodiaphyseal Dysplasia

📊

Negative

No pathogenic variants detected

📊

Variant of Uncertain Significance

Further testing or clinical correlation needed

⚠️ When to Consult a Doctor:

If symptoms persist or family history suggests genetic disorder.

Limitations

  • May not detect all mutations
  • Results require genetic counseling

Risks & Considerations

  • Minimal risk from blood draw
  • Genetic implications

Interfering Factors

  • Sample contamination
  • Degraded DNA

Frequently Asked Questions

What is Gnathodiaphyseal Dysplasia?
Gnathodiaphyseal dysplasia is a rare genetic disorder that affects the bones and teeth, caused by mutations in the ANO5 gene.
What causes Gnathodiaphyseal Dysplasia?
It is caused by mutations in the ANO5 gene, which is inherited in an autosomal recessive pattern.
What are the symptoms of Gnathodiaphyseal Dysplasia?
Symptoms include abnormal bone growth, bone pain, fractures, abnormal teeth development, jaw pain, swelling, and difficulty chewing or speaking.
How is Gnathodiaphyseal Dysplasia diagnosed?
Diagnosis is primarily through genetic testing, such as the ANO5 Gene NGS Genetic Test, which detects mutations in the ANO5 gene.
What is the ANO5 Gene Test?
It is a next-generation sequencing (NGS) test that analyzes the ANO5 gene for mutations associated with Gnathodiaphyseal dysplasia.
How does NGS technology work?
NGS technology sequences DNA to identify genetic variations, offering high accuracy and the ability to detect rare mutations.
What is the cost of the test?
The cost of the ANO5 Gene Gnathodiaphyseal dysplasia NGS Genetic Test is INR 20,000, inclusive of sample collection, DNA extraction, sequencing, and analysis.
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 within 3 to 4 weeks after sample collection.
What should I do before the test?
A genetic counseling session is recommended to discuss clinical history and draw a pedigree chart of affected family members.
What do the results mean?
Results indicate whether pathogenic mutations in the ANO5 gene are detected, which can confirm or rule out Gnathodiaphyseal dysplasia.
Who should consider this test?
Individuals with symptoms of Gnathodiaphyseal dysplasia, a family history of the disorder, or those seeking genetic diagnosis 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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