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TIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related NGS Genetic Test

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TIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related NGS Genetic Test

Short Name: TIMM21 NGS Genetic Test

Also known as: TIMM21 Gene Sequencing, TIMM21 Mitochondrial Disease NGS Panel, TIMM21 Gene Mutation Test, Mitochondrial Respiratory Chain Disease Genetic Test

TIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related 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 generally available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 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 detect disease-causing variants in the TIMM21 gene and aid the diagnosis of mitochondrial respiratory chain disease, enabling early medical management and family counselling.

Test Code
4337
CPT Code
N/A
ICD Code
N/A
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session to draw a pedigree chart of family members affected with TIMM21-related mitochondrial disease is recommended before the test. Clinical history of the patient should be provided to the laboratory.

Method: Venipuncture, FTA card blood spot, or DNA submission

Step 2

Laboratory Analysis

For blood sample collection, a small volume of venous blood is drawn by a trained phlebotomist. For FTA card collection, one drop of blood is applied to the FTA card and allowed to dry. Extracted DNA can also be submitted if already available.

Step 3

Report Delivery

The sample is transported to DNA Labs India under the recommended conditions. The clinical report and raw data files will be made available within 3 to 4 weeks. Please discuss the report with your physician and genetic counsellor.

Timeline: Reports are generally available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:A referral from a clinician is recommended. Pre-test genetic counselling and a three-generation pedigree are advised before undergoing this NGS test.
2
During the Test:A blood sample is collected by a trained phlebotomist, or an FTA spot is prepared. Extracted DNA samples are submitted according to laboratory instructions.
3
After the Test:The laboratory will release a clinical report in 3-4 weeks. Please discuss the report with your doctor and genetic counsellor before making any medical decisions.

About This Test

Who Should Get This Test

To detect disease-causing variants in the TIMM21 gene and aid the diagnosis of mitochondrial respiratory chain disease, enabling early medical management and family counselling.

How to Prepare

  • No fasting is required.
  • Complete the test requisition form and provide the patient's clinical history.
  • If blood sample is being collected, use an EDTA vacuum tube.
  • If FTA card is used, apply one drop of blood and let it dry completely before packaging.

Doctor's Notes

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

"Genetic counselling is strongly recommended for patients and families affected by or suspected to have TIMM21-related mitochondrial disease to understand inheritance, recurrence risk, and reproductive implications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume1 EDTA tube / 1 FTA spot / Extracted DNA as required
ContainerEDTA vacutainer / DNA storage vial / FTA card
Collection MethodVenipuncture, FTA card blood spot, or DNA submission

Sample Stability

Whole blood in EDTA
Extracted DNA
FTA card
Sample Rejection Criteria:
  • Insufficient blood volume
  • Clotted or hemolyzed sample
  • Incorrect or missing labeling
  • Sample received in wrong container
  • FTA card contaminated with moisture or mold
  • Clinical history and consent not received

Understanding Your Results

The interpretation of this genetic test must be done by a qualified physician or clinical geneticist in the context of the patient's clinical presentation, biochemical findings, family history, and genetic counselling.
📊

No pathogenic variant detected

Negative result; TIMM21-related disease is less likely, but not completely excluded.

📊

Pathogenic or likely pathogenic variant detected

Positive result; supports the diagnosis of TIMM21-related mitochondrial respiratory chain disease. Genetic counselling is recommended.

📊

Variant of uncertain significance (VUS)

Not diagnostic; additional family testing or further evidence may be required to clarify significance.

📊

Benign or likely benign variant detected

No clinical significance; considered not disease-causing.

⚠️ When to Consult a Doctor:

Consult your physician or clinical geneticist if you or your child have symptoms suggestive of mitochondrial disease, such as seizures, developmental delay, muscle weakness, cardiomyopathy, liver dysfunction, kidney dysfunction, visual/hearing loss, or breathing difficulties.

Limitations

  • ⚠This test is designed to detect single nucleotide variants and small insertions/deletions in the coding regions and splice sites of TIMM21; large deletions may not be detected by this NGS test.
  • ⚠A negative result does not exclude mitochondrial respiratory chain disease caused by pathogenic variants in other genes.
  • ⚠Variants of uncertain significance may require additional family testing or functional validation.
  • ⚠Test interpretation depends on current ACMG guidelines, gene-specific databases, and available medical literature at the time of reporting.

Risks & Considerations

  • ●Slight bruising, discomfort, or, rarely, infection at the venepuncture site.
  • ●No significant medical risk is associated with an FTA blood spot collection.

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample mix-up or mislabeling
  • ●PCR or sequencing artifacts caused by contaminated samples
  • ●High homology regions that may affect sequence alignment
  • ●Clinically significant variants in deep intronic or regulatory regions not covered by this NGS assay

Compare With Similar Tests

TestTIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related NGS Genetic Test
ComparisonTIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related NGS Genetic Test

Frequently Asked Questions

What is the cost of TIMM21 gene NGS genetic test at DNA Labs India?
The test costs INR 20,000 at DNA Labs India. This discounted price includes home sample collection in many cities, NGS analysis, clinical report, and provision of raw data, FASTQ, and VCF files.
What is mitochondrial respiratory chain disease?
Mitochondrial respiratory chain disease is a group of energy metabolism disorders caused by defects in the mitochondrial respiratory chain, which reduces the cell's ability to produce ATP. It can affect multiple organs, especially those with high energy demand.
What is the TIMM21 gene?
The TIMM21 gene encodes translocase of inner mitochondrial membrane 21, a protein involved in importing proteins into the inner mitochondrial membrane. Changes in this gene can disrupt respiratory chain assembly and lead to mitochondrial disease.
What symptoms can be seen in TIMM21-related mitochondrial disease?
Reported symptoms include seizures, developmental delay, muscle weakness, cardiomyopathy, liver disease, kidney disease, visual and hearing impairment, and respiratory problems. Severity varies from patient to patient.
What sample is accepted for this test?
The accepted samples are whole blood, extracted DNA, or one drop of blood on an FTA card. The exact requirement depends on the laboratory.
Is fasting required before sample collection?
No, fasting is not required for this genetic test. However, pre-test genetic counselling and clinical history are advised.
When will I get the report?
Reports are generally available within 3 to 4 weeks after the sample is received at the laboratory.
Why should I ask for raw data, FASTQ, and VCF files?
Raw data, FASTQ and VCF files allow transparency and enable future reinterpretation as new scientific evidence emerges. DNA Labs India provides these files with the clinical report.
Can this NGS test detect all mitochondrial diseases?
No. This test is focused on the TIMM21 gene. Other mitochondrial diseases may require a broader NGS panel, whole exome sequencing, or mitochondrial genome sequencing.
Who should consider ordering this test?
This test should be considered when a clinician suspects TIMM21-related mitochondrial respiratory chain disease based on clinical features, biochemical testing, or family history. A neurologist or clinical geneticist may order the test.
Will insurance cover this genetic test?
Coverage varies by policy. Government schemes such as PMJAY, CGHS, ECHS and ESIC generally do not cover this test; private insurance depends on the individual policy and clinical indication.
Is genetic counselling recommended with this test?
Yes, pre- and post-test genetic counselling is strongly recommended to understand the inheritance, recurrence risk, implications for family members, and reproductive options.
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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✓ 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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