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HOXA1 Gene Athabaskan brainstem dysgenesis syndrome NGS Genetic Test

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HOXA1 Gene Athabaskan brainstem dysgenesis syndrome NGS Genetic Test

Short Name: HOXA1 Gene Test

HOXA1 Gene Athabaskan brainstem dysgenesis syndrome 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

✍️ 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 diagnose Athabaskan Brainstem Dysgenesis Syndrome by detecting mutations in the HOXA1 gene using next-generation sequencing, aiding in clinical management and genetic counseling.

Test Code
5654
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 counseling session to draw a pedigree chart of family members affected with Athabaskan Brainstem Dysgenesis Syndrome.

Method: Blood Draw

Step 2

Laboratory Analysis

Standard blood collection procedure by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:A blood sample is collected for DNA extraction and NGS analysis.
3
After the Test:Results are reviewed by a geneticist, and a report is provided with recommendations.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Athabaskan Brainstem Dysgenesis Syndrome by detecting mutations in the HOXA1 gene using next-generation sequencing, aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile equipment for blood draw
  • Store samples at ambient room temperature
  • Transport to lab promptly

Doctor's Notes

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

"This test is crucial for early diagnosis and management of Athabaskan Brainstem Dysgenesis Syndrome in children, enabling timely intervention and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw

Sample Stability

Blood samples stable for 48 hours at room temperature
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the HOXA1 gene. Positive results confirm diagnosis, while negative results may require further testing.
Positive: Pathogenic variant detected – confirms Athabaskan Brainstem Dysgenesis Syndrome
Negative: No pathogenic variant detected – does not rule out other genetic causes
Variant of Uncertain Significance (VUS): Requires further evaluation and family studies
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as difficulty swallowing, breathing problems, or developmental delays are present, or if there is a family history of the syndrome.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Results require clinical correlation and genetic counseling

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is HOXA1 Gene Athabaskan Brainstem Dysgenesis Syndrome?
It is a rare genetic disorder caused by mutations in the HOXA1 gene, affecting brainstem development and leading to symptoms like breathing difficulties, swallowing problems, and developmental delays.
How is the NGS Genetic Test performed?
The test involves a simple blood draw to collect DNA, which is then analyzed using next-generation sequencing technology to identify mutations in the HOXA1 gene.
What is the cost of the HOXA1 Gene NGS Genetic Test?
The test costs INR 20000.0, which includes sample collection, analysis, and report delivery.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings 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 are the symptoms of Athabaskan Brainstem Dysgenesis Syndrome?
Symptoms include difficulty swallowing, breathing problems, abnormal eye movements, speech difficulties, developmental delays, and hearing loss.
Is the test covered by insurance?
No, the test is not typically covered by insurance, but it is available at a discounted price through DNA Labs India.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples for this test.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What is the turnaround time for reports?
Reports are delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
Can this test diagnose other genetic disorders?
While focused on HOXA1 gene mutations, the NGS technology may detect variants in other genes, but the primary purpose is for Athabaskan Brainstem Dysgenesis Syndrome.
What should I do after receiving the test results?
Consult a genetic counselor or healthcare professional to interpret the results and discuss management options.
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

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.

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