PSMB8 Gene Autoinflammation, lipodystroph and dermatosis syndrome NGS Genetic Test
Short Name: PRAAS NGS Genetic Test
Also known as: PRAAS, Proteasome-Associated Autoinflammatory Syndrome
PSMB8 Gene Autoinflammation, lipodystroph and dermatosis 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 3 to 4 Weeks. 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 the PSMB8 Gene Autoinflammation, Lipodystrophy, and Dermatosis Syndrome NGS Genetic Test is to identify mutations in the PSMB8 gene for accurate diagnosis of PRAAS, guide personalized treatment strategies, enable early intervention, and provide genetic counseling for affected individuals and their families.
- Test Code
- 4853
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with PRAAS.
Method: Venipuncture or FTA card collection
Laboratory Analysis
Sample collection via venipuncture for blood or use of FTA card for one drop blood. Ensure proper labeling and handling.
Report Delivery
Sample is sent to the lab for NGS analysis. Results are available in 3-4 weeks and delivered via online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PSMB8 Gene Autoinflammation, Lipodystrophy, and Dermatosis Syndrome NGS Genetic Test is to identify mutations in the PSMB8 gene for accurate diagnosis of PRAAS, guide personalized treatment strategies, enable early intervention, and provide genetic counseling for affected individuals and their families.
How to Prepare
- Collect blood in EDTA tube or use FTA card for one drop blood
- Label samples correctly with patient details
- Store at ambient room temperature
- Transport to lab within specified stability period
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of PRAAS through NGS testing allows for targeted therapy, management of symptoms, and genetic counseling for families to understand inheritance risks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of PRAAS; tailored treatment and genetic counseling recommended.
Likely pathogenic variant detected
Strong evidence for PRAAS; clinical correlation and further testing may be advised.
Variant of uncertain significance (VUS)
Insufficient evidence; monitor symptoms and consider family studies.
No pathogenic variants detected
PRAAS unlikely due to PSMB8 mutations; consider other diagnoses.
Consult a doctor if symptoms such as recurrent fever, skin rashes, joint pain, or abnormal fat distribution persist, or for genetic counseling regarding family planning and inheritance risks.
Limitations
- ⚠May not detect all genetic variants, including large deletions or duplications
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not replace clinical evaluation and other diagnostic tests
- ⚠Genetic counseling is recommended for understanding implications
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Poor sample quality (e.g., hemolyzed blood)
- ●Contamination during sample collection or processing
- ●Insufficient DNA quantity
- ●Technical errors in sequencing
Frequently Asked Questions
What is PSMB8 Gene Autoinflammation, Lipodystrophy, and Dermatosis Syndrome (PRAAS)?
What are the common symptoms of PRAAS?
How is PRAAS diagnosed?
What does the NGS Genetic Test for PRAAS involve?
What is the cost of the PSMB8 Gene NGS Genetic Test?
How long does it take to get the test results?
Is home sample collection available for this test?
What sample types are accepted for the test?
Do I need to fast before the test?
What are the benefits of genetic testing for PRAAS?
Can PRAAS be treated?
Is genetic counseling provided with the test?
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