USB1 Gene Poikiloderma with neutropenia NGS Genetic Test
Short Name: USB1 Gene Poikiloderma Test
Also known as: Clericuzio Syndrome, Poikiloderma with Neutropenia Syndrome
USB1 Gene Poikiloderma with neutropenia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 USB1 Gene Poikiloderma with Neutropenia NGS Genetic Test is to detect mutations in the USB1 gene that cause Poikiloderma with Neutropenia. This test aids in accurate diagnosis, helps healthcare professionals develop personalized treatment plans, assesses the risk of related genetic conditions, and provides information for genetic counseling and family planning.
- Test Code
- 5110
- 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
- NGS Technology
Sample Collection
No specific preparation is required. Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
Method: Venipuncture or finger-prick
Laboratory Analysis
A small blood sample (5 ml) will be collected via venipuncture or a finger-prick for FTA card. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the collection site to prevent bleeding. Resume normal activities immediately. Store samples as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the USB1 Gene Poikiloderma with Neutropenia NGS Genetic Test is to detect mutations in the USB1 gene that cause Poikiloderma with Neutropenia. This test aids in accurate diagnosis, helps healthcare professionals develop personalized treatment plans, assesses the risk of related genetic conditions, and provides information for genetic counseling and family planning.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples to the lab within 48 hours at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for USB1 gene mutations is essential for early diagnosis and management of Poikiloderma with Neutropenia, helping to tailor treatment plans and provide genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated samples
Understanding Your Results
Positive for USB1 mutation
Confirms diagnosis of Poikiloderma with Neutropenia. Genetic counseling and tailored management recommended.
Negative for USB1 mutation
No pathogenic variants detected. Consider other genetic or clinical causes for symptoms.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a healthcare professional if you or your child experience symptoms such as sun-sensitive skin, frequent infections, delayed growth, or other abnormalities mentioned. Genetic testing is recommended for confirmation.
Limitations
- ⚠May not detect all genetic variants or mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
- ⚠Limited to analysis of the USB1 gene only
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Improper sample handling or storage
- ●Hemolyzed blood sample
- ●Recent blood transfusion
Compare With Similar Tests
| Test | USB1 Gene Poikiloderma with neutropenia NGS Genetic Test | Whole Exome Sequencing | Targeted Gene Panel for Skin Disorders | Karyotyping |
|---|---|---|---|---|
| Comparison | USB1 Gene Poikiloderma with neutropenia NGS Genetic Test |
Frequently Asked Questions
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Reference 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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ 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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