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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 Gene Hand-foot-uterus syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

PediatricsAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

To identify mutations in the HOXA13 gene for diagnosis of Hand-Foot-Uterus syndrome, aiding in clinical management and genetic counseling.

Test Code
5755
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling recommended. Provide clinical history and pedigree chart.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card spotting by trained phlebotomist.

Step 3

Report Delivery

Sample sent to laboratory for analysis. Reports delivered in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to draw pedigree chart and discuss test implications.
2
During the Test:Sample collection and processing in NGS laboratory.
3
After the Test:Report delivery and follow-up genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To identify mutations in the HOXA13 gene for diagnosis of Hand-Foot-Uterus syndrome, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper labeling of sample
  • Avoid hemolysis during blood draw
  • Store sample at appropriate temperature

Doctor's Notes

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

"This test is crucial for diagnosing Hand-Foot-Uterus syndrome, especially in families with a history of congenital abnormalities, aiding in genetic counseling and management."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Sample Volume3-5 mL blood or as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Blood: 2-8°C for 48 hours
FTA card: Room temperature stable for extended periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or degraded sample
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the HOXA13 gene, aiding in diagnosis of Hand-Foot-Uterus syndrome.
Positive: Pathogenic variant detected, consistent with HFU diagnosis
Negative: No pathogenic variants detected, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms of Hand-Foot-Uterus syndrome are present, such as hand/foot abnormalities or uterine issues, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a screening test for general population

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Frequently Asked Questions

What is Hand-Foot-Uterus syndrome?
Hand-Foot-Uterus syndrome (HFU) is a rare genetic disorder affecting the development of hands, feet, and uterus, caused by mutations in the HOXA13 gene.
What causes HFU?
HFU is caused by mutations in the HOXA13 gene, which is involved in limb and reproductive organ development during embryonic growth.
What are the symptoms of HFU?
Symptoms include abnormalities in fingers and toes (missing or extra digits), short digits, uterine malformations, and infertility.
How is HFU diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as the HOXA13 Gene NGS Genetic Test, to confirm mutations.
What is the HOXA13 gene test?
It is an NGS-based genetic test that analyzes the HOXA13 gene for mutations to diagnose Hand-Foot-Uterus syndrome.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
What if the test is positive?
A positive result indicates a pathogenic variant in the HOXA13 gene, confirming HFU diagnosis. Genetic counseling is recommended for management and family planning.
Can HFU be treated?
There is no cure for HFU, but management focuses on addressing symptoms, such as surgical interventions for hand/foot abnormalities and fertility treatments.
Why choose DNA Labs India for this test?
DNA Labs India provides accurate results with NGS technology, quick turnaround, experienced staff, state-of-the-art facilities, and shares raw data files for transparency.
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.

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✓ 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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