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HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test

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HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test

Short Name: HOXA13 HFU Syndrome NGS Test

Also known as: Hand-foot-uterus syndrome, HFU syndrome, HOXA13-related syndrome

HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 the HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test is to identify mutations in the HOXA13 gene that cause Hand-foot-uterus syndrome. This test aids in confirming the diagnosis, understanding the genetic basis of the condition, and providing information for genetic counseling and management.

Test Code
5530
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 Technology
Step 1

Sample Collection

No specific preparation required. Ensure genetic counseling session is scheduled if needed.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss test implications and draw a pedigree chart.
2
During the Test:Sample collection via blood draw or FTA card; procedure is minimally invasive.
3
After the Test:Results available in 3-4 weeks; follow-up consultation advised for interpretation.

About This Test

Who Should Get This Test

The purpose of the HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test is to identify mutations in the HOXA13 gene that cause Hand-foot-uterus syndrome. This test aids in confirming the diagnosis, understanding the genetic basis of the condition, and providing information for genetic counseling and management.

How to Prepare

  • Collect blood in an EDTA tube or use FTA card for one drop blood
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature
  • Avoid hemolysis or clotting of blood samples

Doctor's Notes

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

"This test is essential for diagnosing HFU syndrome, guiding management, and informing reproductive decisions for affected individuals and families."

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 equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

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

Understanding Your Results

Results from the HOXA13 Gene NGS Genetic Test should be interpreted by a geneticist or healthcare provider in the context of clinical symptoms and family history.
Positive result: Pathogenic mutation in HOXA13 gene detected, consistent with Hand-foot-uterus syndrome diagnosis.
Negative result: No pathogenic variants identified; clinical symptoms may require further testing or evaluation.
Variant of uncertain significance (VUS): Genetic variant found, but clinical significance is unknown; genetic counseling recommended.
⚠️ When to Consult a Doctor:

Consult a geneticist or gynecologist if you experience symptoms of HFU, have a family history, or receive a positive test result for genetic counseling and management.

Limitations

  • ⚠May not detect all types of genetic variations, such as large deletions or duplications
  • ⚠Requires interpretation by a qualified geneticist
  • ⚠Results should be correlated with clinical findings and family history

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising, pain, or infection at the puncture site
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type or handling

Compare With Similar Tests

TestHOXA13 Gene Hand-foot-uterus syndrome NGS Genetic TestSanger Sequencing for HOXA13Comprehensive Limb Malformation Panel
ComparisonHOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test

Frequently Asked Questions

What is Hand-foot-uterus syndrome?
Hand-foot-uterus syndrome (HFU) is a rare genetic disorder characterized by malformations of the hands, feet, and uterus, caused by mutations in the HOXA13 gene.
What causes HFU syndrome?
HFU syndrome is caused by mutations in the HOXA13 gene, which provides instructions for a protein essential for normal development of hands, feet, and the female reproductive system.
What are the symptoms of HFU syndrome?
Symptoms include abnormalities such as missing or extra fingers or toes, fusion of digits, nail malformations, and in females, uterine anomalies like a double uterus or absence of the uterus.
How is HFU syndrome diagnosed?
Diagnosis is based on physical examination and genetic testing, such as NGS to detect HOXA13 gene mutations.
What is the HOXA13 gene?
The HOXA13 gene provides instructions for making a protein involved in the development of hands, feet, and the uterus; mutations in this gene cause HFU syndrome.
What is NGS genetic testing?
Next-generation sequencing (NGS) is an advanced technology that can sequence DNA to detect genetic mutations with high accuracy, used for diagnosing rare disorders like HFU.
How accurate is this test?
The NGS Genetic Test for HOXA13 is highly accurate for detecting pathogenic mutations, but results should be interpreted by a geneticist in clinical context.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What is the cost of the test?
The HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test costs INR 20,000.
What should I do if I test positive?
If you test positive, consult a geneticist or gynecologist for genetic counseling, management options, and family planning advice.
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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