WNT7A Gene Ulna and fibula, absence of, with severe limb deficiency NGS Genetic Test
Short Name: WNT7A NGS Genetic Test
Also known as: WNT7A Gene Sequencing, Ulna and Fibula Absence Genetic Test, Severe Limb Deficiency NGS Panel
WNT7A Gene Ulna and fibula, absence of, with severe limb deficiency 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to confirm a clinical diagnosis of WNT7A-related limb deficiency syndrome, identify carriers in families, and provide essential information for genetic counseling and reproductive planning. It also aids in differentiating this condition from other similar skeletal dysplasias.
- Test Code
- 5972
- CPT Code
- 81408
- ICD Code
- Q71.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test. Please inform the lab if you have had a blood transfusion recently.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample from a vein in your arm. The procedure is quick and causes minimal discomfort.
Report Delivery
You can resume normal activities immediately. The sample will be sent to the laboratory for analysis. Results will be available in 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm a clinical diagnosis of WNT7A-related limb deficiency syndrome, identify carriers in families, and provide essential information for genetic counseling and reproductive planning. It also aids in differentiating this condition from other similar skeletal dysplasias.
How to Prepare
- Ensure the sample is collected in an EDTA vacutainer or on an FTA card as provided.
- Label the sample with patient name, date of birth, and collection date.
- For FTA cards, allow the blood spot to dry completely before packaging.
- Transport the sample at ambient temperature; avoid extreme heat or cold.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for WNT7A mutations is crucial for accurate diagnosis and family planning. Early detection can significantly improve management and counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the diagnosis of WNT7A-related limb deficiency. Genetic counseling is recommended for the family.
Negative (No pathogenic variant detected)
Reduces the likelihood of WNT7A-related condition, but does not exclude other genetic causes.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Further testing of family members may be needed.
If you or your child have symptoms such as missing or underdeveloped bones in the arms or legs, or if there is a family history of limb malformations, consult a clinical geneticist or pediatrician for evaluation and possible genetic testing.
Limitations
- ⚠This test only analyzes the WNT7A gene and does not detect mutations in other genes that may cause similar phenotypes.
- ⚠Regulatory region variants, deep intronic mutations, and large deletions/duplications may not be detected by standard NGS.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess non-genetic causes of limb deficiencies.
Risks & Considerations
- ●No significant physical risks associated with blood draw
- ●Possible bruising or discomfort at the puncture site
- ●Psychological impact of receiving genetic results
- ●Potential for finding variants of uncertain significance
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (within 2 weeks) may affect results
Compare With Similar Tests
| Test | WNT7A Gene Ulna and fibula, absence of, with severe limb deficiency NGS Genetic Test | WNT7A Gene Sequencing (Sanger) | Skeletal Dysplasia Panel (NGS) |
|---|---|---|---|
| Comparison | WNT7A Gene Ulna and fibula, absence of, with severe limb deficiency NGS Genetic Test |
Frequently Asked Questions
What is the WNT7A gene and its role?
What does this NGS genetic test detect?
Who should consider this test?
What sample is required?
Is fasting required before the test?
How long does it take to get results?
What is the cost of the test?
Will I receive raw data files?
Can this test be done during pregnancy?
What does a positive result mean?
What if the result is negative?
Is home sample collection available?
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₹20,000Reference Laboratory Services
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