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HOXD13 Gene Syndactyly type 1 NGS Genetic Test

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HOXD13 Gene Syndactyly type 1 NGS Genetic Test

Short Name: HOXD13 Syndactyly NGS

Also known as: HOXD13 Gene Sequencing, Syndactyly Type 1 Genetic Test, NGS for Syndactyly

HOXD13 Gene Syndactyly type 1 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm a clinical diagnosis of Syndactyly type 1 by detecting mutations in the HOXD13 gene. It also helps in assessing the risk for family members, guiding reproductive decisions, and providing information for management and surveillance.

Test Code
5946
CPT Code
81405
ICD Code
Q70.9
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. A genetic counseling session is recommended before testing to discuss implications.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample is drawn by a trained phlebotomist. For FTA card, a fingerstick blood drop is applied.

Step 3

Report Delivery

No restrictions. Resume normal activities.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:No fasting required. Discuss with your doctor about the test and its implications.
2
During the Test:A simple blood draw or FTA card sample collection.
3
After the Test:You can resume normal activities. Results will be available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of Syndactyly type 1 by detecting mutations in the HOXD13 gene. It also helps in assessing the risk for family members, guiding reproductive decisions, and providing information for management and surveillance.

How to Prepare

  • For blood: Use EDTA vacutainer, mix gently.
  • For FTA card: Apply one drop of blood to each circle, air dry.
  • Label sample with patient ID and date.
  • Transport at ambient temperature.

Doctor's Notes

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

"Genetic testing for syndactyly type 1 is crucial for accurate diagnosis, family counseling, and management. NGS provides high sensitivity for HOXD13 mutations."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 FTA card spot
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood: 7 days at 2-8°C, 24 hours at room temperature
Extracted DNA: 1 year at -20°C
FTA card: 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Insufficient quantity
  • Improper labeling
  • Sample received after prolonged transit without proper storage

Understanding Your Results

The test result is interpreted by a clinical geneticist. A positive result indicates a pathogenic mutation in HOXD13, confirming the diagnosis. A negative result does not rule out syndactyly type 1 if clinical suspicion is high.
📊

Positive

Pathogenic variant identified. Confirms diagnosis. Genetic counseling recommended for family.

📊

Negative

No pathogenic variant found. Other genetic causes may be considered.

📊

Variant of Uncertain Significance (VUS)

Variant found but significance unknown. Further testing may be needed.

⚠️ When to Consult a Doctor:

If you or your child have webbed fingers/toes, or if there is a family history of syndactyly, consult a geneticist or pediatrician for evaluation.

Limitations

  • ⚠This test detects mutations only in the HOXD13 gene; other genes may cause similar phenotypes.
  • ⚠Regulatory region mutations may not be detected by standard NGS.
  • ⚠Large deletions/duplications may require additional testing (MLPA).
  • ⚠Variant interpretation may be inconclusive in some cases.

Risks & Considerations

  • ●Minimal risk of bruising at blood draw site
  • ●No significant risks associated with genetic testing

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample quantity
  • ●Maternal cell contamination in prenatal samples
  • ●Rare variants of uncertain significance

Compare With Similar Tests

TestHOXD13 Gene Syndactyly type 1 NGS Genetic TestSanger SequencingChromosomal Microarray
ComparisonHOXD13 Gene Syndactyly type 1 NGS Genetic Test

Frequently Asked Questions

What is the cost of the HOXD13 gene syndactyly type 1 NGS genetic test?
The test costs INR 20000 at DNA Labs India, which includes free home sample collection and a comprehensive report.
What sample is required for this test?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is fasting required before the test?
No, fasting is not required.
What does the test detect?
It detects mutations in the HOXD13 gene associated with syndactyly type 1.
Will I receive raw data files?
Yes, DNA Labs India provides raw data (FASTQ, VCF) along with the clinical report.
Is genetic counseling included?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss implications.
Can this test be done for children?
Yes, it is suitable for all ages, including children.
Is home sample collection available?
Yes, free home sample collection is available across major cities in India.
What is the turnaround time?
3 to 4 weeks.
Are there any risks?
Only minimal risks like bruising from blood draw.
How accurate is the NGS test?
NGS is highly accurate for detecting point mutations and small indels in the HOXD13 gene.
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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