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ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic Test

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ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic Test

Short Name: ISCU Myopathy NGS Test

Also known as: IMLH, ISCU Myopathy

ISCU Gene Myopathy with lactic acidosis hereditary 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose mutations in the ISCU gene causing hereditary myopathy with lactic acidosis, enabling accurate diagnosis, treatment planning, and genetic counseling.

Test Code
5338
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)
Step 1

Sample Collection

No specific preparation required. Inform the healthcare provider of any medications, supplements, or medical conditions. Ensure proper identification and consent.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm using sterile technique. For DNA extraction, follow lab instructions.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bleeding. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No special preparation needed. Provide clinical history and undergo genetic counseling if required.
2
During the Test:Blood sample collection takes a few minutes. The test involves NGS analysis in a laboratory.
3
After the Test:Resume normal activities. Results will be available in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose mutations in the ISCU gene causing hereditary myopathy with lactic acidosis, enabling accurate diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Use sterile equipment and proper venipuncture technique
  • Label sample correctly with patient details
  • Transport blood sample at ambient temperature in a secure container
  • For FTA card, follow specific instructions for blood drop application

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is crucial for diagnosing hereditary myopathy with lactic acidosis, aiding in family planning and management. Early detection can guide treatment and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Room temperature24 hours for blood
Refrigerated (2-8°C)72 hours for blood
Extracted DNAStable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect container or labeling
  • Contaminated sample

Understanding Your Results

Results from the ISCU Gene Myopathy NGS Genetic Test indicate the presence or absence of mutations in the ISCU gene. Interpretation should be done by a qualified geneticist or healthcare professional.
📊

Positive for pathogenic variant

Confirms diagnosis of ISCU Gene Myopathy with Lactic Acidosis Hereditary. Genetic counseling and management planning are recommended.

📊

Negative for pathogenic variants

No mutations detected in the ISCU gene. Clinical correlation is advised if symptoms persist.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found, but its clinical significance is unknown. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a doctor if you or a family member experience symptoms such as muscle weakness, exercise intolerance, developmental delays, seizures, or signs of lactic acidosis. Also, seek advice if there is a family history of similar disorders.

Limitations

  • ⚠May not detect all genetic variants or deep intronic mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings and family history
  • ⚠Not a substitute for comprehensive clinical evaluation

Risks & Considerations

  • ●Minimal physical risks from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Risk of incidental findings unrelated to the test

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is ISCU Gene Myopathy with Lactic Acidosis Hereditary?
It is a rare genetic disorder caused by mutations in the ISCU gene, leading to muscle problems and lactic acid buildup in the blood.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the ISCU gene from a blood or DNA sample, detecting mutations accurately.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the common symptoms of this disorder?
Symptoms include muscle weakness, exercise intolerance, developmental delay, speech difficulties, intellectual disability, seizures, and lactic acidosis.
Is the test accurate?
Yes, NGS is a highly accurate method for detecting genetic mutations, but results should be interpreted by a genetic specialist.
Do I need a doctor's referral for the test?
A referral is recommended, but you can book the test directly. Genetic counseling is advised before and after testing.
What if the test result is positive?
A positive result confirms the diagnosis, and you should consult a healthcare professional for management and genetic counseling.
Can children undergo this test?
Yes, the test can be performed on individuals of all ages, including children, with appropriate consent.
Is the test covered by insurance?
Coverage depends on your insurance policy. Check with your provider; DNA Labs India offers affordable pricing.
How should I prepare for the test?
No special preparation is needed. Provide your clinical history and ensure proper sample collection.
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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For Hospitals & Clinics

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.

LIMS Integration

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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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