RIPK4 Gene Popliteal pterygium syndrome, lethal type NGS Genetic Test
Short Name: RIPK4 NGS Test
Also known as: RIPK4 Gene Sequencing, PPS Lethal Type Genetic Test, RIPK4 Mutation Analysis
RIPK4 Gene Popliteal pterygium syndrome, lethal type 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 reaches 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 Popliteal pterygium syndrome, lethal type, by identifying pathogenic mutations in the RIPK4 gene. It also aids in carrier testing, prenatal diagnosis, and genetic counseling for at-risk families.
- Test Code
- 5913
- CPT Code
- 81408
- ICD Code
- Q87.8
- 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 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 before the test to discuss the implications of results.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile techniques. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific precautions are needed. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports 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 purpose of this test is to confirm a clinical diagnosis of Popliteal pterygium syndrome, lethal type, by identifying pathogenic mutations in the RIPK4 gene. It also aids in carrier testing, prenatal diagnosis, and genetic counseling for at-risk families.
How to Prepare
- Ensure the patient's identity is verified before sample collection.
- Use EDTA tube for blood collection; mix gently to prevent clotting.
- If using FTA card, label with patient details and allow to dry completely.
- Transport samples to the lab within 24-48 hours at room temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for RIPK4 is crucial for early diagnosis and management of lethal PPS. NGS provides comprehensive analysis of the gene, aiding in accurate genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time
Understanding Your Results
Positive for pathogenic variant
Confirms the diagnosis of RIPK4-related PPS. Genetic counseling is recommended for the family.
Negative for pathogenic variant
No disease-causing variant found in RIPK4. Other genetic causes may be considered.
Variant of uncertain significance (VUS)
A variant was found but its clinical significance is unclear. Further testing of family members may be needed.
Consult a clinical geneticist or pediatrician if you or your child exhibits symptoms suggestive of PPS, such as webbing of skin, cleft lip/palate, or genital anomalies. Early genetic testing can guide management and family planning.
Limitations
- ⚠This test only analyzes the RIPK4 gene; other genes associated with PPS are not covered.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be needed.
- ⚠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
- ●No significant risks associated with the test itself
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete coverage of the gene due to technical limitations
Compare With Similar Tests
| Test | RIPK4 Gene Popliteal pterygium syndrome, lethal type NGS Genetic Test | Whole Exome Sequencing (WES) | Sanger Sequencing | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | RIPK4 Gene Popliteal pterygium syndrome, lethal type NGS Genetic Test |
Frequently Asked Questions
What is the cost of the RIPK4 gene NGS test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done during pregnancy?
What does a positive result mean?
What is a variant of uncertain significance (VUS)?
Will I receive raw data files?
Is home sample collection available?
Can this test detect all types of PPS?
Who should consider this test?
How accurate is the NGS 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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✓ 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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