HOXD13 Gene Syndactyly type 5 NGS Genetic Test
Short Name: HOXD13 Syndactyly NGS
Also known as: HOXD13 gene mutation test, Syndactyly type 5 genetic test, NGS for HOXD13
HOXD13 Gene Syndactyly type 5 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 Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of syndactyly type 5 by identifying pathogenic variants in the HOXD13 gene. It helps in predicting the severity of symptoms, guiding medical management, and providing accurate recurrence risk for family planning. Genetic testing also enables early intervention and appropriate referrals to specialists.
- Test Code
- 5948
- CPT Code
- 81408
- ICD Code
- Q70.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or finger prick
Laboratory Analysis
A blood sample will be drawn from a vein in your arm, or a finger prick for FTA card collection. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be sent to the laboratory for analysis. Results will be available in 3-4 weeks.
Timeline: Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of syndactyly type 5 by identifying pathogenic variants in the HOXD13 gene. It helps in predicting the severity of symptoms, guiding medical management, and providing accurate recurrence risk for family planning. Genetic testing also enables early intervention and appropriate referrals to specialists.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card
- Label the sample with your name and date of birth
- If using FTA card, allow the blood spot to dry completely before sealing
- Transport the sample to the lab within 24 hours if not collected at home
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for syndactyly type 5 is crucial for accurate diagnosis, prognosis, and family counseling. NGS provides comprehensive analysis of the HOXD13 gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
- Sample received after prolonged delay without proper storage
Understanding Your Results
Positive
Pathogenic variant detected; diagnosis confirmed. Genetic counseling recommended for family members.
Action: Discuss management options and family planning.
Negative
No pathogenic variant found; alternative causes may be considered.
Action: Further evaluation by a geneticist may be needed.
Variant of Uncertain Significance (VUS)
A genetic change was found but its clinical significance is unknown.
Action: Additional testing or family studies may be required.
Consult a geneticist or pediatrician if you or your child have symptoms of syndactyly, or if there is a family history of the condition. Early consultation can help in timely diagnosis and management.
Limitations
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠Variants of uncertain significance may require further analysis
- ⚠Test does not assess non-genetic causes of syndactyly
- ⚠Genetic counseling is essential for interpretation
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Recent blood transfusion (may affect DNA analysis)
- ●Bone marrow transplant (may cause mixed DNA results)
Compare With Similar Tests
| Test | HOXD13 Gene Syndactyly type 5 NGS Genetic Test | Sanger Sequencing | Chromosomal Microarray | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | HOXD13 Gene Syndactyly type 5 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the HOXD13 Gene Syndactyly type 5 NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Is home sample collection available?
What is the inheritance pattern of syndactyly type 5?
Can this test be done for children?
What does a positive result mean?
Are there any risks associated with the test?
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Do I need genetic counseling before the test?
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₹20,000Reference Laboratory Services
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