PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test
Short Name: PUS1 NGS Test
Also known as: PUS1 Gene Sequencing, Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test, PUS1 NGS Panel
PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 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 3, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of PUS1-related mitochondrial myopathy and sideroblastic anemia type 1 by identifying pathogenic variants in the PUS1 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations. Genetic testing helps guide medical management, prognosis, and reproductive decisions.
- Test Code
- 5855
- CPT Code
- 81407
- ICD Code
- D64.0
- 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 is required. However, a genetic counseling session is recommended before the test to discuss the implications of results. Please bring any relevant clinical records or family history.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. If using FTA card, a fingerstick blood drop will be placed on the card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You may resume normal activities immediately. The sample will be sent 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 confirm a clinical diagnosis of PUS1-related mitochondrial myopathy and sideroblastic anemia type 1 by identifying pathogenic variants in the PUS1 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations. Genetic testing helps guide medical management, prognosis, and reproductive decisions.
How to Prepare
- Ensure the patient's identity is verified
- Use sterile equipment for blood collection
- If FTA card is used, allow the blood spot to dry completely before packaging
- Label the sample with patient details and date of collection
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of PUS1 mutations is crucial for managing mitochondrial myopathy and sideroblastic anemia. This NGS test provides a definitive diagnosis, enabling timely intervention and family counseling."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- 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 PUS1-related mitochondrial myopathy and sideroblastic anemia type 1. Genetic counseling recommended for family members.
Likely pathogenic variant detected
Highly suggestive of disease; clinical correlation and family segregation studies may be needed.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing of family members or functional studies may be required.
No pathogenic variant detected
No evidence of PUS1-related disease; consider other genetic causes.
If you or a family member experience symptoms such as muscle weakness, fatigue, anemia, or breathing difficulties, consult a neurologist or geneticist. Genetic testing is recommended for early diagnosis and management.
Limitations
- ⚠This test does not detect large genomic rearrangements or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Negative result does not exclude other genetic causes of mitochondrial myopathy
- ⚠Test is not intended for newborn screening
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mosaic variants may be missed
Compare With Similar Tests
| Test | PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test | Mitochondrial Genome Sequencing | Sideroblastic Anemia Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test | This test analyzes the entire mitochondrial genome, while the PUS1 test focuses on a nuclear gene. Both may be used in the evaluation of mitochondrial disorders. | This panel includes multiple genes associated with sideroblastic anemia, including PUS1, ALAS2, SLC25A38, etc. It may be more comprehensive for anemic presentations. | WES covers all coding regions of the genome and may identify variants in PUS1 as well as other genes. It is more expensive and time-consuming. |
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