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HOXA13 Gene Guttmacher syndrome NGS Genetic Test

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HOXA13 Gene Guttmacher syndrome NGS Genetic Test

Short Name: HOXA13 Guttmacher Syndrome NGS Test

Also known as: HOXA13 Gene Syndrome

HOXA13 Gene Guttmacher 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.

NGS Genetic TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the HOXA13 gene for diagnosis of Guttmacher Syndrome.

Test Code
5753
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

Provide clinical history and undergo genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture.

Step 3

Report Delivery

Sample sent to laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Analysis and report generation with genetic counseling.

About This Test

Who Should Get This Test

To detect mutations in the HOXA13 gene for diagnosis of Guttmacher Syndrome.

How to Prepare

  • Fast if required
  • Bring identification documents
  • Ensure proper sample labeling

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early diagnosis through genetic testing can help in managing symptoms and planning appropriate interventions for Guttmacher Syndrome."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Room temperature24 hours
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate presence or absence of pathogenic mutations in the HOXA13 gene.
📊

Positive

Pathogenic mutation detected, consistent with Guttmacher Syndrome. Consult a geneticist for management.

📊

Negative

No pathogenic mutations detected. Clinical correlation recommended if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms of Guttmacher Syndrome are present, such as hand/foot abnormalities, or if there is a family history of the condition.

Limitations

  • May not detect all types of mutations
  • Results require genetic counseling interpretation

Risks & Considerations

  • Minimal physical risk from blood draw
  • Potential psychological impact of results

Interfering Factors

  • Sample contamination
  • Degraded DNA

Frequently Asked Questions

What is Guttmacher Syndrome?
Guttmacher Syndrome is a rare genetic disorder caused by mutations in the HOXA13 gene, affecting hand and foot development.
What does the NGS Genetic Test involve?
The test uses next-generation sequencing to analyze the HOXA13 gene from a blood or saliva sample for mutations.
How accurate is the test?
The test is highly accurate with next-generation sequencing technology, providing definitive diagnosis.
What is the cost of the test?
The cost is INR 20000, including test and genetic counseling consultation.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
Is home sample collection available?
Yes, free home collection is available for online bookings across India.
What are the symptoms of Guttmacher Syndrome?
Symptoms include hand/foot abnormalities, ear deformities, dental issues, cleft lip/palate, and microcephaly.
How is Guttmacher Syndrome diagnosed?
Diagnosis involves physical examination, genetic testing like this NGS test, and other diagnostic tests.
What treatments are available?
Treatments include surgery for physical abnormalities, speech therapy, occupational therapy, and other interventions.
Is genetic counseling included?
Yes, the test cost includes a genetic counseling consultation.
Can I get raw data files from the test?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report.
Is the test covered by insurance?
Coverage depends on the insurance scheme; check with your provider for details.
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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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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