Skip to main content
DNA Labs India

DHODH Gene Postaxial acrofacial dysostosis NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DHODH Gene Postaxial acrofacial dysostosis NGS Genetic Test

Short Name: DHODH Gene NGS Test

Also known as: Miller syndrome, Postaxial acrofacial dysostosis type 1

DHODH Gene Postaxial acrofacial dysostosis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 Test🏠 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 identify pathogenic mutations in the DHODH gene to confirm a diagnosis of postaxial acrofacial dysostosis, aid in clinical management, and provide information for genetic counseling and family planning.

Test Code
2784
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Genetic counseling is recommended prior to testing to discuss implications and obtain informed consent.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or collection of one drop blood on FTA card.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test, implications, and provide informed consent.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Wait for results (3-4 weeks) and schedule a follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the DHODH gene to confirm a diagnosis of postaxial acrofacial dysostosis, aid in clinical management, and provide information for genetic counseling and family planning.

How to Prepare

  • Avoid hemolysis for blood samples
  • Ensure proper labeling of samples
  • Use sterile collection techniques

Doctor's Notes

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

"This test is essential for confirming diagnosis in suspected cases and guiding family planning and management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries based on sample type
ContainerEDTA tube for blood, FTA card for one drop blood
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA card samples stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the DHODH gene associated with postaxial acrofacial dysostosis.
📊

Positive

Pathogenic or likely pathogenic variant detected in the DHODH gene, confirming diagnosis of postaxial acrofacial dysostosis.

📊

Negative

No pathogenic variants detected in the DHODH gene; clinical correlation and further testing may be needed.

📊

Variant of uncertain significance

A variant was detected but its clinical significance is unknown; genetic counseling and follow-up recommended.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if symptoms of postaxial acrofacial dysostosis are present, for family planning advice, or after receiving test results for management guidance.

Limitations

  • ⚠May not detect all possible mutations in the DHODH gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of test results

Interfering Factors

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

Compare With Similar Tests

TestDHODH Gene Postaxial acrofacial dysostosis NGS Genetic TestWhole Exome SequencingChromosomal Microarray AnalysisSanger SequencingFISH for specific genes
ComparisonDHODH Gene Postaxial acrofacial dysostosis NGS Genetic Test

Frequently Asked Questions

What is postaxial acrofacial dysostosis?
It is a rare genetic disorder affecting bone development in the face, hands, and feet, caused by mutations in the DHODH gene.
What are the common symptoms?
Symptoms include underdeveloped fingers/toes, abnormal facial features, short stature, speech difficulties, and hearing loss.
How is the test performed?
The test uses NGS technology to analyze DNA from a blood or FTA card sample for mutations in the DHODH gene.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the DHODH gene, confirming the diagnosis.
What if the result is negative?
A negative result means no mutation was detected, but clinical correlation and further testing may be needed.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to discuss implications and results.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings with appropriate genetic counseling, but consult a healthcare provider.
What are the limitations of the test?
It may not detect all mutations, and results should be interpreted alongside clinical findings.
How do I book the test?
You can book online through DNA Labs India's website or contact them via phone or WhatsApp.
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.

Related Tests

Amino Acids Qualitative Two Dimensional Urine Test

₹1,439

Succinylacetone Urine Test

₹5,000

RXFP2 Gene Cryptorchidism NGS Genetic Test

₹20,000

EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test

₹20,000

MNX1 Gene Currarino syndrome NGS Genetic Test

₹20,000

FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test

₹20,000
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

Your Data Privacy

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.