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SUCLG1 Gene Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria NGS Genetic Test

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SUCLG1 Gene Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria NGS Genetic Test

Short Name: SUCLG1 Gene NGS Test

Also known as: SUCLG1 Gene Sequencing, Mitochondrial DNA Depletion Syndrome NGS Test, Succinate-CoA Ligase Alpha Subunit Gene Test

SUCLG1 Gene Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria 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 from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

The primary purpose of this test is to identify pathogenic variants in the SUCLG1 gene using NGS technology, thereby establishing a molecular diagnosis of SUCLG1-related mitochondrial DNA depletion syndrome. It also supports genetic counseling, recurrence-risk assessment, and clinical management planning.

Test Code
4329
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 from sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please carry relevant clinical notes, biochemical reports, and family history details. A genetic counseling session may be scheduled prior to sample collection.

Method: Venipuncture / FTA card blood spot

Step 2

Laboratory Analysis

For blood, a standard venipuncture is performed. For FTA card collection, a few drops of blood are spotted onto the card and allowed to dry.

Step 3

Report Delivery

After sample collection, you can resume normal activities. The laboratory will provide tracking confirmation and the report will be shared via email, portal, or WhatsApp when ready.

Timeline: Reports are typically available within 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No fasting is required. Please carry relevant clinical notes, biochemical reports, and family history details. A genetic counseling session may be scheduled prior to sample collection.
2
During the Test:Sample collection is quick. For blood, a standard venipuncture is done. For FTA card, a blood spot is collected.
3
After the Test:After sample collection, you can resume normal activities. The laboratory will send a tracking confirmation. Reports will be shared via email or portal when ready.

About This Test

Who Should Get This Test

The primary purpose of this test is to identify pathogenic variants in the SUCLG1 gene using NGS technology, thereby establishing a molecular diagnosis of SUCLG1-related mitochondrial DNA depletion syndrome. It also supports genetic counseling, recurrence-risk assessment, and clinical management planning.

How to Prepare

  • No special preparation is needed for this genetic test.
  • If providing blood, label the EDTA tube with patient name, UHID, and date.
  • For FTA cards, allow the blood spot to air dry completely before packing.
  • Samples should be transported to the laboratory as per collection guidance.

Doctor's Notes

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

"Pre-test genetic counseling is essential to document family history, discuss the autosomal recessive inheritance pattern, and review the clinical significance of SUCLG1 variants. The test should be interpreted with a metabolic specialist or clinical geneticist."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA vacutainer / sterile tube / FTA card
Collection MethodVenipuncture / FTA card blood spot

Sample Stability

Sample Rejection Criteria:
  • Unlabelled or mismatched sample.
  • Blood in plain tube or heparin tube.
  • FTA card with improperly dried or contaminated blood spots.
  • Insufficient sample quantity.

Understanding Your Results

The interpretation of this test requires clinical correlation with biochemical findings, imaging, and family history. The laboratory report will describe any detected variants and their classification according to standard guidelines.
📊

Negative test result. It does not rule out a mitochondrial disorder caused by other genes. Clinical correlation and further testing may be recommended.

📊

Positive test result. This confirms a genetic diagnosis of SUCLG1-related mitochondrial DNA depletion syndrome in the appropriate clinical context.

📊

A genetic variant was found, but its clinical significance is unknown. Additional testing of family members or functional studies may help clarify.

⚠️ When to Consult a Doctor:

If the test result is positive, consult a clinical geneticist, neurologist, or metabolic specialist for management and family screening. If symptoms persist and the test is negative, further evaluation for other mitochondrial disorders is recommended.

Limitations

  • ⚠Standard NGS may not reliably detect large deletions, duplications, or structural variants.
  • ⚠Deep intronic variants, promoter mutations, and certain regulatory region variants are generally not evaluated.
  • ⚠A negative result does not exclude mitochondrial DNA depletion syndrome caused by variants in other nuclear or mitochondrial genes.
  • ⚠Variants of uncertain significance may require additional family segregation studies or functional analysis.

Risks & Considerations

  • ●Minor bruising or pain at the venipuncture site.
  • ●Very low risk of infection when phlebotomy is performed aseptically.
  • ●Psychological impact of a genetic diagnosis.

Interfering Factors

  • ●DNA degradation due to improper sample storage or transport.
  • ●Sample contamination from another individual.
  • ●Recent allogeneic blood transfusion or bone marrow transplantation can affect DNA analysis.
  • ●Incorrect sample labelling or insufficient sample quantity.

Frequently Asked Questions

What is the SUCLG1 gene NGS genetic test?
This is a targeted next-generation sequencing test that analyzes the SUCLG1 gene to detect pathogenic variants associated with mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria. It helps establish a molecular diagnosis.
What conditions are associated with SUCLG1 mutations?
Mutations in SUCLG1 are associated with autosomal recessive mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria, presenting with muscle weakness, developmental delay, seizures, encephalopathy, and methylmalonic aciduria.
What is the cost of the test?
The test costs INR 20,000, which includes the NGS analysis, clinical interpretation, genetic counseling support, and access to raw data files (FASTQ and VCF) along with the clinical report at DNA Labs India.
What sample is required for the test?
The sample can be blood in an EDTA vacutainer, extracted DNA, or one drop of blood on an FTA card. Sample type can be confirmed at the time of booking.
Is fasting required before sample collection?
No, fasting is not required for this genetic test. The sample can be collected at any time of the day.
How long does it take to get the report?
The clinical report is generally available in 3 to 4 weeks after the sample reaches the laboratory, as NGS sequencing and variant analysis require sufficient time.
What is the significance of raw data (FASTQ and VCF) files?
Raw data files provide transparency and allow independent bioinformatics review. DNA Labs India shares raw data files with the clinical report to support secondary analysis, research, or future reinterpretation.
Who should consider this genetic test?
This test is recommended for individuals with clinical features suggestive of mitochondrial encephalomyopathy, unexplained methylmalonic aciduria, developmental regression, seizures, or a family history of SUCLG1-related disorders.
Can a negative result rule out mitochondrial DNA depletion syndrome?
A negative result significantly reduces the likelihood of SUCLG1-related disease, but it does not entirely exclude mitochondrial DNA depletion syndrome, as other nuclear or mitochondrial genes can cause similar phenotypes. Clinical correlation and further testing may be needed.
What are the limitations of NGS-based single gene testing?
Standard NGS may not reliably detect large copy number variants, deep intronic mutations, or certain epigenetic changes. Variants of uncertain significance may require additional segregation analysis or functional studies.
Is genetic counseling provided with the test?
Yes, genetic counseling is an integral part of the test. A counselor helps draw a family pedigree, explains the inheritance pattern, and discusses result implications.
How do home sample collection services work?
For online bookings, DNA Labs India offers free home sample collection in major cities across India. A trained phlebotomist visits your location, collects the sample, and arranges transportation to the lab.
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.

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