DES Gene Neurogenic scapuloperoneal syndrome, Kaeser type NGS Genetic Test
Short Name: DES Gene NGS Genetic Test
Also known as: Neurogenic Scapuloperoneal Syndrome, Kaeser Type, DES Gene Related Scapuloperoneal Syndrome
DES Gene Neurogenic scapuloperoneal syndrome, Kaeser 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 delivered within 3-4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the DES gene, confirming the diagnosis of neurogenic scapuloperoneal syndrome, Kaeser type. It also helps in carrier detection and genetic counseling for at-risk family members.
- Test Code
- 4408
- ICD Code
- G12.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3-4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation. A genetic counseling session is recommended to draw a pedigree chart.
Method: Peripheral Venipuncture / FTA card blood spot
Laboratory Analysis
A venous blood sample is collected by a trained phlebotomist. For FTA card, a few drops of blood are spotted.
Report Delivery
The sample is securely transported to the lab. Patients can return to normal activities immediately.
Timeline: Reports are typically delivered within 3-4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the DES gene, confirming the diagnosis of neurogenic scapuloperoneal syndrome, Kaeser type. It also helps in carrier detection and genetic counseling for at-risk family members.
How to Prepare
- Ensure the sample tube is properly labeled with patient name, date, and time of collection.
- For blood collection, use an EDTA vacutainer to prevent clotting.
- If using FTA card, allow the blood spot to dry completely before sealing the bag.
- If providing extracted DNA, ensure it is quantified and shipped on ice.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test confirms DES gene mutations responsible for neurogenic scapuloperoneal syndrome. Early molecular diagnosis enables appropriate neuromuscular management, physiotherapy, and informed genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect sample type (e.g., serum instead of EDTA blood)
- Insufficient quantity of blood or DNA
- Poor labeling or missing sample match
Understanding Your Results
Confirmed disease-causing mutation; supports clinical diagnosis
Likely disease-causing; evidence suggests association with condition
Clinical significance unclear; may require family segregation studies
Probably not disease-associated
Normal variant; not associated with disease
If symptoms such as shoulder muscle wasting, foot drop, or difficulty climbing stairs appear, or if a genetic result shows a pathogenic variant, consult a neurologist and clinical geneticist for management and family counseling.
Limitations
- ⚠This test only detects mutations in the DES gene and does not rule out other genetic etiologies of scapuloperoneal syndrome.
- ⚠NGS may not detect deep intronic variants, large deletions/duplications, or trinucleotide repeat expansions.
- ⚠Interpretation of variants of uncertain significance may require additional family studies.
Risks & Considerations
- ●Minimal risk of bruising at venipuncture site
Interfering Factors
- ●Maternal cell contamination
- ●Amplification failure of specific exons
- ●Highly homologous pseudogene interference
- ●Insufficient DNA quantity
Compare With Similar Tests
| Test | DES Gene Neurogenic scapuloperoneal syndrome, Kaeser type NGS Genetic Test | DES Gene NGS Test | Comprehensive Neuromuscular NGS Panel |
|---|---|---|---|
| Comparison | DES Gene Neurogenic scapuloperoneal syndrome, Kaeser type NGS Genetic Test |
Frequently Asked Questions
What is DES gene neurogenic scapuloperoneal syndrome?
What is the role of the DES gene?
What are the symptoms of this condition?
How is the condition diagnosed?
What is the cost of the DES gene NGS genetic test?
What sample is required for the test?
Do I need to fast for this test?
How long will it take to get the report?
Is home sample collection available?
What does a positive DES gene mutation mean?
Can this test be used for family planning?
Is the test covered by insurance?
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