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DNA Labs India

MTM1 Gene Myotubular myopathy X-linked NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MTM1 Gene Myotubular myopathy X-linked NGS Genetic Test

Short Name: MTM1 NGS Genetic Test

Also known as: MTM1 Gene Sequencing Test, X-linked Myotubular Myopathy Genetic Test, Myotubular Myopathy NGS Genetic Test

MTM1 Gene Myotubular myopathy X-linked 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 after the sample is received by the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestMale/FemaleInfants, Children, Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic variants in the MTM1 gene using next-generation sequencing, helping confirm or rule out X-linked myotubular myopathy in symptomatic individuals and carriers.

Test Code
4396
ICD Code
G71.2
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after the sample is received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please provide a detailed clinical history and doctor's referral. A genetic counselling session to draw a pedigree chart of affected family members is recommended before the test.

Method: Peripheral blood draw, FTA card one-drop blood collection, or extracted DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will collect the sample. If an FTA card is used, one drop of blood is applied to the card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be transported to the laboratory under appropriate conditions for NGS analysis.

Timeline: 3 to 4 weeks after the sample is received by the laboratory.

Patient Instructions

1
Before the Test:Discuss your symptoms and family history with your doctor; complete the pre-test genetic counselling session and consent form. No fasting is required.
2
During the Test:A health-care professional will collect a blood sample or an FTA card one-drop blood sample. The collection process takes only a few minutes.
3
After the Test:The sample is sent to the laboratory for NGS analysis. Your report will be released in 3 to 4 weeks, and you may receive genetic counselling to understand the result.

About This Test

Who Should Get This Test

To identify pathogenic variants in the MTM1 gene using next-generation sequencing, helping confirm or rule out X-linked myotubular myopathy in symptomatic individuals and carriers.

How to Prepare

  • Use an EDTA tube for whole blood collection
  • Label the FTA card and blood tube with the patient's name and date of collection
  • Attach the clinical history and referral form with the sample
  • Extracted DNA should be accompanied by source sample details

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test should be ordered after a clinical genetics consultation. The result must be interpreted along with the neurological examination, clinical history and family pedigree."

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 selected collection method
ContainerEDTA tube, sterile DNA vial, or FTA card
Collection MethodPeripheral blood draw, FTA card one-drop blood collection, or extracted DNA submission

Sample Stability

Whole blood in EDTA tube
FTA card blood spot
Sample Rejection Criteria:
  • Incorrectly labelled or unlabelled sample
  • Clotted or hemolyzed whole blood sample
  • Inadequate DNA quantity or quality
  • Sample container leaking during transport

Understanding Your Results

This is a targeted single-gene NGS test. Results should be interpreted by a clinical geneticist in the context of the patient's clinical presentation and family history. Pre-test and post-test genetic counselling are strongly recommended.
📊

Pathogenic or likely pathogenic variant detected in MTM1 gene (hemizygous in a male)

Consistent with a diagnosis of X-linked myotubular myopathy.

📊

Pathogenic or likely pathogenic variant detected in MTM1 gene (heterozygous in a female)

Consistent with carrier status; clinical significance depends on family history and X-inactivation pattern.

📊

No pathogenic variant detected

Does not confirm myotubular myopathy; other genetic or non-genetic causes of congenital myopathy should be considered.

📊

Variant of uncertain significance detected

Insufficient evidence to classify as disease-causing; additional family studies or further testing may be required.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you notice unexplained muscle weakness, hypotonia, feeding or breathing difficulty in an infant, delayed motor skills, or if there is a family history of X-linked myotubular myopathy.

Limitations

  • ⚠Targeted single-gene NGS detects sequence variants and small insertions/deletions in the coding and splice-site regions; it may not detect all large deletions/duplications or deep intronic variants.
  • ⚠A variant of uncertain significance may need additional family studies.
  • ⚠A negative result does not completely exclude an MTM1-related cause if a non-coding or structural variant is present.

Risks & Considerations

  • ●Minor pain or bruising at the blood collection site
  • ●Rare possibility of vasovagal episode during blood draw
  • ●Psychological impact of receiving genetic result

Interfering Factors

  • ●Insufficient or degraded DNA sample
  • ●Sample contamination or incorrect labelling
  • ●Use of an unsuitable collection tube
  • ●Very low-level mosaicism may not be reliably detected

Frequently Asked Questions

What is the MTM1 gene myotubular myopathy X-linked NGS genetic test?
It is a targeted genetic test that uses next-generation sequencing to analyse the MTM1 gene for pathogenic variants associated with X-linked myotubular myopathy. It helps confirm the diagnosis in symptomatic individuals and identify carriers in families with a relevant history.
What is the price of this test at DNA Labs India?
The test is available at a special discounted price of INR 20000. For online bookings, DNA Labs India also offers free home sample collection in many cities across India.
What sample is needed for the MTM1 gene NGS test?
The test can be performed on whole blood, extracted DNA, or one drop of blood placed on an FTA card. The sample is collected during the home visit or at the collection centre.
Is fasting required for this genetic test?
No, fasting is not required for the MTM1 gene NGS genetic test. You can eat and drink normally before sample collection.
How long does it take to get reports?
The turnaround time is 3 to 4 weeks after the sample is received by the laboratory. This is because NGS testing involves sequencing, data analysis and clinical interpretation.
Who should consider this test?
This test is recommended for individuals with features of myotubular myopathy such as infantile hypotonia, breathing or feeding difficulty, delayed motor milestones, or a family history of X-linked myotubular myopathy. It may also be used for carrier testing in females with a relevant family history.
Is home sample collection available?
Yes. For online bookings, DNA Labs India offers free home sample collection for this test in Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Ahmedabad, Pune and many other cities across India.
Can females be tested with this MTM1 test?
Yes. Females with a family history of X-linked myotubular myopathy may undergo this test for carrier identification. Most carrier females do not have symptoms, but some may have mild muscle weakness.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant was identified in the MTM1 gene. In a symptomatic male, this confirms the diagnosis of X-linked myotubular myopathy. In a female, it is consistent with carrier status.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the MTM1 gene. However, it does not completely exclude all rare or non-coding variants, and other genetic causes should be considered with your doctor.
Do I need genetic counselling before this test?
Yes. Pre-test genetic counselling is recommended to draw a pedigree chart of affected family members, discuss the test's benefits and limitations, and obtain informed consent.
Which technology is used for this test?
The test uses Next-Generation Sequencing (NGS) technology. This allows rapid and accurate analysis of the MTM1 gene and is performed in a NABL-accredited laboratory.
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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