PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test
Short Name: PUS1 Gene Test
Also known as: PUS1 Gene Mutation Test, Mitochondrial Myopathy Genetic Test, Sideroblastic Anemia Type 1 Genetic Test
PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to identify genetic mutations in the PUS1 gene that are associated with mitochondrial myopathy and sideroblastic anemia type 1. It helps confirm diagnosis, assess carrier status, and inform management strategies for affected individuals and their families.
- Test Code
- 5269
- 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 (Next-Generation Sequencing)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members. No fasting required.
Method: Venipuncture
Laboratory Analysis
A small blood sample is collected via venipuncture from a vein in the arm.
Report Delivery
The sample is sent to the laboratory for NGS analysis. Results are delivered online or via email/WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify genetic mutations in the PUS1 gene that are associated with mitochondrial myopathy and sideroblastic anemia type 1. It helps confirm diagnosis, assess carrier status, and inform management strategies for affected individuals and their families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection tubes
- Label samples accurately
- Request raw data, FASTQ, and VCF files for transparency
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or insufficient sample
- Incorrect labeling
- Contaminated specimens
Understanding Your Results
Negative
No pathogenic variants detected in the PUS1 gene. Clinical correlation advised.
Positive
Pathogenic variant(s) identified, supporting diagnosis of mitochondrial myopathy and sideroblastic anemia type 1.
Variant of Uncertain Significance (VUS)
Genetic variant found but clinical significance unknown. Further testing or family studies may be needed.
Consult a doctor if you experience symptoms such as muscle weakness, anemia, or have a family history of these conditions. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Results require clinical correlation
- ⚠Genetic counseling recommended for interpretation
Risks & Considerations
- ●Minor bruising at the blood draw site
- ●Rare risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Poor sample quality
- ●Contaminated DNA
- ●Technical errors in sequencing
Frequently Asked Questions
What is the PUS1 Gene NGS Genetic Test?
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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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ 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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