HOXD13 Gene Vater association NGS Genetic Test
Short Name: HOXD13 NGS
Also known as: HOXD13 gene sequencing, VACTERL NGS panel, HOXD13 mutation analysis
HOXD13 Gene Vater association NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports will be available within 3 to 4 weeks from the date of sample receipt 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 identify pathogenic variants in the HOXD13 gene that may be associated with VATER association or related limb malformation syndromes. Genetic confirmation can help in establishing a precise diagnosis, guiding clinical management, and providing accurate recurrence risk information for family planning.
- Test Code
- 5978
- CPT Code
- 81407
- ICD Code
- Q87.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports will be available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger confirmation
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test. Please provide a detailed clinical history and family pedigree.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a fingerstick blood drop will be applied to the card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is required. You may resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Reports will be available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the HOXD13 gene that may be associated with VATER association or related limb malformation syndromes. Genetic confirmation can help in establishing a precise diagnosis, guiding clinical management, and providing accurate recurrence risk information for family planning.
How to Prepare
- Ensure the patient's identity is verified with a valid ID.
- For blood collection, use an EDTA tube and mix gently to prevent clotting.
- For FTA card, apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"VATER association is a complex condition requiring a multidisciplinary approach. Genetic testing for HOXD13 can aid in confirming the diagnosis and providing accurate recurrence risk counseling for families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Sample received without proper labeling
- Sample exposed to extreme temperatures
- FTA card with insufficient blood or contamination
Understanding Your Results
Positive (Pathogenic variant detected)
The patient has a pathogenic variant in the HOXD13 gene, which is likely responsible for the clinical features. Genetic counseling is recommended for family members.
Negative (No pathogenic variant detected)
No disease-causing variant was identified in the HOXD13 gene. This does not rule out VATER association, as other genetic or environmental factors may be involved.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is not yet known. Further testing of family members or functional studies may be needed.
If you or your child have symptoms suggestive of VATER association, or if you have a family history of the condition, it is advisable to consult a clinical geneticist or pediatrician for a comprehensive evaluation and to discuss the appropriateness of genetic testing.
Limitations
- ⚠This test only analyzes the HOXD13 gene; variants in other genes associated with VATER association may not be detected.
- ⚠Regulatory region variants, deep intronic variants, and large structural rearrangements may not be identified by standard NGS.
- ⚠A negative result does not exclude the diagnosis of VATER association, as the condition is often clinically diagnosed.
- ⚠Variant interpretation may be limited by current knowledge; variants of uncertain significance may be reported.
- ⚠This test is not intended for prenatal diagnosis unless specifically requested and validated.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Possible psychological impact of genetic test results
- ●Risk of incidental findings unrelated to the primary condition
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Degraded DNA due to improper storage or transport
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (within 2 weeks) may dilute patient's DNA
- ●Insufficient sample quantity
Compare With Similar Tests
| Test | HOXD13 Gene Vater association NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Targeted VACTERL gene panel |
|---|---|---|---|---|
| Comparison | HOXD13 Gene Vater association NGS Genetic Test |
Frequently Asked Questions
What is the cost of the HOXD13 Gene VATER Association 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?
What does the NGS test analyze?
Will I receive raw data files?
Can this test be done on children?
Is home sample collection available?
What is VATER association?
How is VATER association diagnosed?
What if the test result is negative?
Are there any risks associated with the test?
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₹20,000Reference 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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