LIFR Gene Stuve-Wiedemann syndrome NGS Genetic Test
Short Name: LIFR NGS Test
Also known as: Stuve-Wiedemann Syndrome Genetic Test, LIFR Gene Mutation Analysis, SWS NGS Panel
LIFR Gene Stuve-Wiedemann syndrome 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 identify pathogenic mutations in the LIFR gene that cause Stuve-Wiedemann Syndrome. It is indicated for individuals with clinical features suggestive of SWS, for confirmation of diagnosis, and for carrier testing in families with a history of the condition. The test also assists in prenatal diagnosis and genetic counseling.
- Test Code
- 5945
- CPT Code
- 81407
- ICD Code
- Q78.8
- 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 required. However, a genetic counseling session is recommended to discuss the implications of the test and to draw a pedigree chart.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood will be placed on the card.
Report Delivery
No specific precautions. The sample will be transported to the laboratory for analysis.
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 identify pathogenic mutations in the LIFR gene that cause Stuve-Wiedemann Syndrome. It is indicated for individuals with clinical features suggestive of SWS, for confirmation of diagnosis, and for carrier testing in families with a history of the condition. The test also assists in prenatal diagnosis and genetic counseling.
How to Prepare
- For blood sample: Use EDTA tube, mix gently to prevent clotting.
- For FTA card: Apply blood drops to the designated circles, allow to air dry.
- Label the sample with patient's name and date of birth.
- Ensure sample is shipped at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for Stuve-Wiedemann syndrome is crucial for early diagnosis and management. NGS provides comprehensive analysis of the LIFR gene, enabling accurate identification of pathogenic variants."
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
Pathogenic variant detected
Confirms diagnosis of Stuve-Wiedemann Syndrome. Autosomal recessive inheritance. Genetic counseling recommended.
Likely pathogenic variant detected
Highly suggestive of disease. Further functional studies may be needed.
Variant of uncertain significance (VUS)
Cannot be classified as pathogenic or benign. Additional family studies or functional assays may be required.
No pathogenic variant detected
Does not rule out Stuve-Wiedemann Syndrome. Consider other genetic causes or clinical re-evaluation.
Consult a pediatric geneticist or specialist if your child exhibits symptoms such as short stature, bowed legs, respiratory distress, feeding difficulties, or recurrent fevers. Early genetic testing can guide management and family planning.
Limitations
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further functional studies
- ⚠Test does not assess other genes associated with similar phenotypes
- ⚠Results should be interpreted in the context of clinical findings
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants in non-coding regions not covered by NGS
Compare With Similar Tests
| Test | LIFR Gene Stuve-Wiedemann syndrome NGS Genetic Test | Whole Exome Sequencing | Sanger Sequencing | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | LIFR Gene Stuve-Wiedemann syndrome NGS Genetic Test | WES analyzes all coding regions of the genome, whereas this test focuses specifically on the LIFR gene. WES may be considered if the clinical picture is unclear. | Sanger sequencing is used for targeted variant confirmation but is less comprehensive than NGS for full gene analysis. | CMA detects copy number variations but does not identify point mutations in LIFR. |
Frequently Asked Questions
What is Stuve-Wiedemann Syndrome?
How is this test performed?
What is the cost of the test?
Is fasting required before the test?
How long does it take to get results?
Will I receive raw data files?
Can this test be done on children?
Is home sample collection available?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
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₹20,000Reference Laboratory Services
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