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PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test

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PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test

Short Name: PUS1 NGS Test

Also known as: PUS1 Gene Mutation Test, MLASA1 Genetic Test, Pseudouridine Synthase 1 Gene NGS Test, Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Gene Test

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 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect pathogenic variants in the PUS1 gene and to support the clinical diagnosis of mitochondrial myopathy and sideroblastic anemia type 1. Early genetic diagnosis can guide management, surveillance, and reproductive counseling.

Test Code
4332
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is required. A pre-test genetic counseling session is recommended to draw a pedigree chart of affected family members and to discuss the purpose and outcomes of the test.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A blood sample will be collected by venipuncture, or a few drops of blood will be placed on an FTA card. The sample is labeled and sent for NGS analysis.

Step 3

Report Delivery

The patient may resume normal daily activities. The sample will be transported to the laboratory and results will be provided in 3 to 4 weeks.

Timeline: 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No special preparation is needed. Genetic counseling and informed consent are recommended.
2
During the Test:The procedure involves a simple blood draw. FTA card collection is non-invasive.
3
After the Test:No restrictions. Results are typically available after 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the PUS1 gene and to support the clinical diagnosis of mitochondrial myopathy and sideroblastic anemia type 1. Early genetic diagnosis can guide management, surveillance, and reproductive counseling.

How to Prepare

  • No fasting or special preparation required.
  • A genetic counseling session to draw a pedigree chart of family members is recommended before testing.
  • Blood sample should be collected in an EDTA vacutainer.
  • For FTA card, apply one drop of blood and allow it to dry before packing.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic counseling, pedigree analysis, and informed consent are recommended before testing. Family follow-up testing may be required to interpret the clinical significance of variants."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS testing
ContainerEDTA tube / FTA card / DNA vial
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA: stable at room temperature for 72 hours.
Extracted DNA: stable at -20°C for long-term storage.
FTA card: stable at room temperature for several weeks.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample.
  • Incorrect or unlabeled sample container.
  • Insufficient sample quantity.
  • Broken tube or contaminated sample during transport.

Understanding Your Results

This NGS test analyzes the PUS1 gene for nucleotide variants. The report will include the detected variant(s), their classification, and clinical recommendations. Results should always be interpreted in the context of clinical and laboratory findings.
📊

Pathogenic variant detected

Confirms the genetic diagnosis of PUS1-related mitochondrial myopathy and sideroblastic anemia type 1. Recommend clinical correlation, family screening, and genetic counseling.

📊

Likely pathogenic variant detected

Strongly suggests a genetic diagnosis; additional evidence, family studies, or functional studies may be needed for definitive classification.

📊

Variant of uncertain significance (VUS) detected

The clinical significance is currently unknown. Additional testing of affected and unaffected family members may help reclassify the variant.

📊

No pathogenic variant detected

Reduces the likelihood of PUS1-related MLASA1, but does not exclude other genetic or acquired causes of symptoms.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist, or hematologist if symptoms such as muscle weakness, anemia, fatigue, hearing loss, lactic acidosis, or developmental delay are present. A doctor will guide the appropriate genetic testing and counseling.

Limitations

  • ⚠This test is specific to the PUS1 gene and does not exclude mitochondrial DNA or other nuclear gene mutations.
  • ⚠Large deletions, duplications, or deep intronic variants may not be reliably detected by standard NGS sequencing.
  • ⚠Variants of uncertain significance may require additional familial segregation analysis.
  • ⚠The clinical significance of a negative result requires correlation with biochemical findings and family history.

Risks & Considerations

  • ●Minimal risk with blood draw
  • ●Possible bruising or discomfort at the blood draw site
  • ●Very low risk of infection

Interfering Factors

  • ●Poor quality or degraded DNA
  • ●Contamination during sample collection
  • ●Incomplete gene coverage due to sequence context
  • ●Concurrent inherited variants in other genes

Compare With Similar Tests

TestPUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test
ComparisonPUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test

Frequently Asked Questions

What is the PUS1 gene test?
This NGS genetic test detects mutations in the PUS1 gene, which are associated with mitochondrial myopathy and sideroblastic anemia type 1 (MLASA1). It is offered by DNA Labs India at INR 20,000.
What is MLASA1?
MLASA1 stands for mitochondrial myopathy and sideroblastic anemia type 1, a rare inherited condition caused by PUS1 gene mutations. It affects muscles, red blood cells, and can cause hearing loss.
What are the symptoms of PUS1-related MLASA1?
Common symptoms include muscle weakness, fatigue, exercise intolerance, anemia, hearing loss, developmental delay, and seizures. Symptoms may vary from person to person.
Who should take this test?
Patients with clinical features of mitochondrial myopathy, unexplained sideroblastic anemia, hearing loss, lactic acidosis, or a family history of PUS1-related MLASA1 may be candidates for this test.
What sample is required?
The test can be done on blood, extracted DNA, or one drop of blood on an FTA card. Sample type is specified when booking.
Do I need to fast?
No, fasting is not required for this genetic test.
How long will the report take?
The clinical report is issued within 3 to 4 weeks after the sample reaches the laboratory.
What is the cost of the PUS1 gene NGS test?
The test costs Rs 20000.0 (INR 20,000), including sample collection, laboratory testing, and a detailed report. Free home sample collection is available for online bookings.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the PUS1 gene. It reduces the likelihood of PUS1-related MLASA1 but does not exclude other genetic or acquired causes.
Can I get raw data files with the report?
Yes, DNA Labs India shares Raw Data, FASTQ, and VCF files along with the conclusive clinical report for transparency.
Is genetic counseling recommended?
Yes, a genetic counseling session to draw a pedigree chart of affected family members is recommended before testing. This helps interpret the result in a family context.
Will insurance cover this test?
Insurance coverage depends on the policy. Government schemes such as PMJAY, CGHS, ECHS, and ESIC may not cover this test. Please confirm with your insurance provider.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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