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MATR3 Gene Amyotrophic Lateral Sclerosis Type 21 NGS Genetic Test

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MATR3 Gene Amyotrophic Lateral Sclerosis Type 21 NGS Genetic Test

Short Name: MATR3 ALS21 NGS Test

Also known as: MATR3 NGS Test, MATR3 ALS21 Genetic Test, Matrin-3 Gene Sequencing, Familial ALS Type 21 Genetic Test

MATR3 Gene Amyotrophic Lateral Sclerosis Type 21 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One Drop Blood on FTA Card samples. Results in Clinically conclusive report and raw data files are issued within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this NGS genetic test is to detect sequence variants in the MATR3 gene that are associated with amyotrophic lateral sclerosis type 21. Early molecular confirmation can support patient management, clarify inheritance, and provide information for family members who may be at risk.

Test Code
3887
ICD Code
G12.21
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One Drop Blood on FTA Card
Result Time
Clinically conclusive report and raw data files are issued 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 a valid photo ID, doctor’s referral, and previous investigation reports. A genetic counselling session may be arranged by the laboratory before collection if not already completed.

Method: Peripheral blood draw / DNA extraction / FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood in an EDTA vacutainer. For FTA card collection, one drop of blood is applied to the marked area and allowed to air dry before placing it in the provided envelope.

Step 3

Report Delivery

Apply gentle pressure to the venipuncture site for a few minutes. There are no dietary or activity restrictions after sample collection.

Timeline: Clinically conclusive report and raw data files are issued within 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No fasting is needed. Bring the neurological evaluation records, family pedigree, previous lab reports and a valid referral. Genetic counselling is strongly recommended before testing.
2
During the Test:The blood sample is collected using a sterile needle. The procedure usually takes only a few minutes.
3
After the Test:You can leave immediately after blood collection and resume normal activities. The laboratory will share the report and raw data within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect sequence variants in the MATR3 gene that are associated with amyotrophic lateral sclerosis type 21. Early molecular confirmation can support patient management, clarify inheritance, and provide information for family members who may be at risk.

How to Prepare

  • Use an EDTA vacutainer for whole blood collection; do not use heparin
  • If using FTA card, collect in the marked circle and air-dry completely before sealing
  • Extracted DNA should be supplied with adequate concentration and purity as specified by the laboratory

Doctor's Notes

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

"Genetic testing for ALS should always be combined with pre-test and post-test genetic counselling. A MATR3 variant alone does not predict age of onset or disease severity; therefore, results must be interpreted within the context of neurological examination and family pedigree."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One Drop Blood on FTA Card
Sample VolumeAs per laboratory requirement for NGS analysis
ContainerEDTA vacutainer / DNA elution tube / FTA card
Collection MethodPeripheral blood draw / DNA extraction / FTA card spot

Sample Stability

Whole blood in EDTA
Extracted DNA
FTA card blood spot
Sample Rejection Criteria:
  • Clotted or severely hemolyzed sample
  • Sample without a matching requisition form
  • Incorrectly labelled or unlabelled sample
  • Insufficient DNA concentration or degraded DNA

Understanding Your Results

The genetic test report should be interpreted in the context of clinical symptoms, family history, and supporting investigations. It is not a standalone diagnostic tool and must be evaluated by a clinical geneticist.
📊

No pathogenic variant detected

Negative test for sequence variants in the coding and splice-site regions of the MATR3 gene tested. It does not rule out other genetic or non-genetic causes of ALS.

📊

Pathogenic / Likely pathogenic variant detected

Variant is considered disease-causing or likely disease-causing. Clinical correlation, family counselling and predictive testing of at-risk relatives are recommended.

📊

Variant of uncertain significance (VUS)

DNA change is identified but its clinical significance is not yet established. Family co-segregation studies and additional functional evidence may be required.

📊

Inadequate coverage

Some target regions were not covered sufficiently for a definitive clinical conclusion. Repeat testing or supplementary testing may be needed for those regions.

⚠️ When to Consult a Doctor:

If you or your family member has progressive muscle weakness, difficulty swallowing or speaking, or a known family history of ALS, you should consult a neurologist and a clinical geneticist. If a pathogenic MATR3 variant is identified, family counseling is strongly advised.

Limitations

  • This test is not a complete ALS multigene panel; a negative result does not exclude other ALS-related genes
  • This NGS test is not designed to detect large deletions/duplications, trinucleotide repeat expansions, mitochondrial mutations or structural rearrangements
  • Variant classification may change over time as new clinical and functional evidence becomes available

Risks & Considerations

  • Minor pain, bruising, or bleeding at the venipuncture site
  • Potential psychological impact from receiving a genetic diagnosis
  • Potential implications for family members and future life decisions

Interfering Factors

  • Poor DNA quality or low DNA quantity may reduce NGS coverage
  • Sample contamination can produce false results
  • Regions with high sequence homology or pseudogenes may complicate interpretation
  • Large structural rearrangements, repeat expansions and deep intronic variants may not be detected by this NGS test

Compare With Similar Tests

TestMATR3 Gene Amyotrophic Lateral Sclerosis Type 21 NGS Genetic TestSOD1 Gene ALS NGS Genetic TestC9orf72 Repeat Expansion ALS Genetic TestFUS Gene ALS NGS Genetic TestTARDBP Gene ALS NGS Genetic Test
ComparisonMATR3 Gene Amyotrophic Lateral Sclerosis Type 21 NGS Genetic Test

Frequently Asked Questions

What is the MATR3 gene test for ALS type 21?
It is an NGS-based genetic test that screens the MATR3 gene for pathogenic variants associated with amyotrophic lateral sclerosis type 21. It is not a universal ALS diagnostic test and should be used when MATR3-related ALS is suspected.
What does ALS type 21 mean?
ALS type 21 is a rare familial subtype of amyotrophic lateral sclerosis caused by mutations in the MATR3 gene. It is typically inherited in an autosomal dominant pattern.
Do I need to fast before this test?
No, fasting is not required for the MATR3 ALS type 21 NGS genetic test.
What type of sample is accepted?
The test can be done on whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
How much does this test cost?
The test costs Rs 20000.0 at DNA Labs India. Free home sample collection is available for online bookings.
How long will my report take?
The clinical report and raw data files are usually provided within 3 to 4 weeks from sample receipt.
Will I receive raw data files?
Yes, DNA Labs India provides FASTQ, VCF and other raw data files along with the conclusive clinical report for this test.
If the test is negative, does it rule out ALS?
No. A negative result only means no detectable pathogenic variant was found in the tested regions of MATR3. Other genetic and non-genetic causes of ALS should still be considered.
What is a variant of uncertain significance?
A variant of uncertain significance (VUS) is a DNA change whose effect on health is not yet fully known. It requires further family studies and specialist interpretation before clinical decisions are made.
Is genetic counselling necessary?
Yes, genetic counselling is strongly recommended before and after testing to help interpret results and their implications for the patient and family.
Is this test covered by insurance?
Coverage varies by policy and scheme. Please check with your insurance provider or the laboratory for the latest reimbursement information.
Can this test be used for prenatal diagnosis?
No, this NGS test is not designed for prenatal samples. If prenatal testing is needed, a separate clinically validated prenatal genetic testing process must be discussed with your clinical geneticist.
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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