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WNT3 Gene Tetraamelia, autosomal recessive NGS Genetic Test

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WNT3 Gene Tetraamelia, autosomal recessive NGS Genetic Test

Short Name: WNT3 Tetraamelia NGS

Also known as: WNT3 Gene Sequencing, Tetraamelia Genetic Test, WNT3 Mutation Analysis

WNT3 Gene Tetraamelia, autosomal recessive 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 at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify pathogenic variants in the WNT3 gene that cause tetraamelia, an autosomal recessive disorder. The test is indicated for individuals with clinical features suggestive of tetraamelia, for confirmation of a suspected diagnosis, and for carrier testing in at-risk family members. It also aids in prenatal diagnosis and preimplantation genetic testing when performed in appropriate clinical settings.

Test Code
5955
CPT Code
81407
ICD Code
Q73.8
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 at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist. If using FTA card, a few drops of blood will be placed on the card.

Step 3

Report Delivery

No restrictions. The sample will be sent to the laboratory for analysis.

Timeline: 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Before the test, a genetic counseling session is recommended to discuss the purpose, risks, and implications. No fasting is required.
2
During the Test:A blood sample is collected. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities immediately. Results will be available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the WNT3 gene that cause tetraamelia, an autosomal recessive disorder. The test is indicated for individuals with clinical features suggestive of tetraamelia, for confirmation of a suspected diagnosis, and for carrier testing in at-risk family members. It also aids in prenatal diagnosis and preimplantation genetic testing when performed in appropriate clinical settings.

How to Prepare

  • For blood sample: Use EDTA vacutainer, mix gently to prevent clotting.
  • For FTA card: Apply blood drops to the designated circles, air dry for 30 minutes.
  • Label the sample with patient name, date, and unique ID.
  • Transport at ambient temperature if delivered within 24 hours; otherwise refrigerate.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic diagnosis of tetraamelia is crucial for family planning and management. This NGS test provides definitive answers."

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 FTA card spot

Sample Stability

Blood in EDTA24 hours
Blood in EDTA72 hours
FTA card1 year
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged transit without proper storage

Understanding Your Results

The interpretation of the WNT3 gene NGS test is based on the identification of pathogenic or likely pathogenic variants in the WNT3 gene. The presence of two such variants (homozygous or compound heterozygous) confirms a diagnosis of autosomal recessive tetraamelia. A single variant indicates carrier status. No variants suggest a negative result, but clinical correlation is essential.
📊

Two pathogenic variants detected

Confirms diagnosis of WNT3-related tetraamelia (autosomal recessive).

Clinical recommendation: Genetic counseling for the family, recurrence risk 25% for future pregnancies.

📊

One pathogenic variant detected

Carrier status; individual is unaffected but at risk of having affected offspring if partner is also a carrier.

Clinical recommendation: Carrier testing for partner, prenatal options discussed.

📊

No pathogenic variants detected

Negative result; does not rule out tetraamelia due to other genetic causes or non-genetic factors.

Clinical recommendation: Consider broader genetic testing or clinical evaluation.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or genetic counselor if you have a family history of tetraamelia, if you have a child with limb absence, or if you are planning a pregnancy and are concerned about genetic risks. Also, consult if you have received a positive carrier result and need reproductive planning advice.

Limitations

  • ⚠This test only analyzes the WNT3 gene; other genes causing similar phenotypes are not covered.
  • ⚠Variant interpretation may be limited by current scientific knowledge.
  • ⚠Regulatory regions and deep intronic variants may not be fully assessed.
  • ⚠Results should be interpreted in the context of clinical findings and family history.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Potential for incidental findings (unrelated to the test purpose)

Interfering Factors

  • ●Contamination of sample with maternal cells in prenatal samples
  • ●Insufficient DNA quantity or quality
  • ●Presence of large deletions/duplications not detected by standard NGS
  • ●Mosaic variants may be missed

Compare With Similar Tests

TestWNT3 Gene Tetraamelia, autosomal recessive NGS Genetic TestWhole Exome Sequencing (WES)Sanger SequencingChromosomal Microarray (CMA)
ComparisonWNT3 Gene Tetraamelia, autosomal recessive NGS Genetic Test

Frequently Asked Questions

What is WNT3 Gene Tetraamelia?
WNT3 Gene Tetraamelia is a rare autosomal recessive disorder caused by mutations in the WNT3 gene, leading to the absence of all four limbs. It is a severe congenital condition.
How is WNT3 Gene Tetraamelia inherited?
It is inherited in an autosomal recessive pattern, meaning both copies of the WNT3 gene must be mutated for the condition to manifest. Carriers with one mutation are unaffected.
What is the cost of the WNT3 NGS Genetic Test at DNA Labs India?
The test costs Rs 20,000, which includes genetic counseling, NGS sequencing, and a comprehensive clinical report.
What sample is required for the test?
A blood sample (2-3 ml in EDTA) or extracted DNA or a blood spot on an FTA card is acceptable.
How long does it take to get results?
The turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test detect carriers?
Yes, the test can identify carriers who have one copy of the mutated gene. Carrier status is important for family planning.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India is transparent and provides raw data files (FASTQ, VCF) along with the clinical report.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
What is the significance of genetic counseling before the test?
Genetic counseling helps you understand the implications of the test, including inheritance patterns, risks, and potential outcomes, ensuring informed decision-making.
Are there any other tests for tetraamelia?
Yes, other tests include whole exome sequencing, chromosomal microarray, and targeted panels. However, this NGS test specifically analyzes the WNT3 gene.
Will insurance cover the cost of this test?
Insurance coverage varies. It is recommended to check with your insurance provider. DNA Labs India offers a discounted price of Rs 20,000.
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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