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TTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2J NGS Genetic Test

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TTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2J NGS Genetic Test

Short Name: TTN LGMD2J NGS Test

Also known as: TTN Gene LGMD2J Genetic Test, TTN Gene Mutation Test, Titin Gene LGMD2J NGS Panel, LGMD2J Molecular Genetic Test

TTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2J 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 The final clinical report is typically available in 3 to 4 weeks after the laboratory receives the sample.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric and Adult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

This test is used to confirm a clinical diagnosis of limb-girdle muscular dystrophy autosomal recessive type 2J by detecting pathogenic variants in the TTN gene. It also helps differentiate LGMD2J from other LGMD subtypes and other hereditary myopathies with overlapping phenotypes, facilitates carrier testing in at-risk relatives, and provides crucial information for genetic counselling and family planning.

Test Code
4205
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The final clinical report is typically available in 3 to 4 weeks after the laboratory receives the sample.
Fasting Required
No
Method
Next-generation sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please carry a valid government ID and a completed test requisition form. If you have a family pedigree, previous muscle biopsy, or creatine kinase report, please share the relevant clinical details with your doctor before testing.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A blood sample will be collected from a vein in your arm. For FTA card sampling, one drop of blood is spotted on the card. The procedure is quick and generally painless.

Step 3

Report Delivery

You can resume normal activities immediately after sample collection. The sample is labelled and transported to the genetics laboratory for next-generation sequencing and analysis.

Timeline: The final clinical report is typically available in 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:No fasting or special preparation is required. Please discuss the test, its benefits, and limitations with your referring physician or genetic counsellor.
2
During the Test:During the genetic counselling session, your counsellor will draw a pedigree chart of family members affected with LGMD2J. A blood or FTA sample is then collected for sequencing.
3
After the Test:Once the sample reaches the laboratory, DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, and clinical interpretation are performed. Raw data files are securely shared with the patient along with the final report.

About This Test

Who Should Get This Test

This test is used to confirm a clinical diagnosis of limb-girdle muscular dystrophy autosomal recessive type 2J by detecting pathogenic variants in the TTN gene. It also helps differentiate LGMD2J from other LGMD subtypes and other hereditary myopathies with overlapping phenotypes, facilitates carrier testing in at-risk relatives, and provides crucial information for genetic counselling and family planning.

How to Prepare

  • No special dietary restrictions are required.
  • The sample can be collected at home by trained phlebotomists.
  • Ensure the sample container or FTA card is correctly labelled with patient details.
  • Inform the laboratory about any history of bone marrow transplantation or recent transfusion.

Doctor's Notes

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

"An NGS-based TTN gene analysis should always be interpreted in the context of the patient's clinical history, family pedigree, and additional functional data when necessary. Genetic counselling is essential before and after testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Whole blood (EDTA): stable for 24-48 hours at ambient room temperature during transport
Extracted DNA: stable for 1 week at 2-8°C
FTA card blood spot: stable at room temperature for transport and processing
Sample Rejection Criteria:
  • Hemolyzed or clotted sample when DNA extraction fails
  • Insufficient sample volume
  • Heparinized blood, which may inhibit PCR
  • Mislabeled or unlabeled samples
  • Samples stored inappropriately leading to DNA degradation

Understanding Your Results

This test analyses the TTN gene for variants associated with LGMD2J. The report should be interpreted by a clinical geneticist or neurologist in the context of the patient's clinical symptoms, family history, and muscle biopsy findings.
📊

Consistent with LGMD2J if clinical presentation and inheritance pattern match; segregation testing in family members is recommended.

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Does not exclude LGMD2J; additional genetic testing or clinical re-evaluation may be required.

📊

The medical significance is unclear; additional family studies and functional evidence may help reclassification.

📊

Individual carries one altered copy of the TTN gene; if no second variant is found, carrier status may be indicated and recurrence risk counselling should be provided.

⚠️ When to Consult a Doctor:

If you or your child have progressive weakness of shoulder or hip muscles, difficulty climbing stairs, running, or lifting objects, or if you have a family history of limb-girdle muscular dystrophy, please consult a neurologist or clinical geneticist.

Limitations

  • ⚠This NGS test detects single-nucleotide variants, small insertions/deletions and splice-site variants in the TTN gene; large structural rearrangements or certain deep intronic variants may not be identified.
  • ⚠Variants of uncertain significance (VUS) may require additional family studies and functional analysis.
  • ⚠Genetic test results should always be correlated with clinical examination, muscle biopsy findings, and biochemical markers.
  • ⚠A negative result does not completely rule out LGMD2J if clinical suspicion is strong; additional testing may be needed.

Risks & Considerations

  • ●Minor discomfort during blood collection
  • ●Small bruise or hematoma at the puncture site
  • ●Lightheadedness or fainting during the procedure, which is rare
  • ●Infection at the puncture site, which is very rare

Interfering Factors

  • ●Low or degraded DNA sample
  • ●Suboptimal PCR amplification during library preparation
  • ●Recent blood transfusion leading to mixed cell population
  • ●Sample mislabelling or mix-up
  • ●Poor specimen storage or transport conditions

Compare With Similar Tests

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ComparisonTTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2J NGS Genetic Test

Frequently Asked Questions

What is Limb-girdle muscular dystrophy type 2J (LGMD2J)?
LGMD2J is a rare autosomal recessive muscular dystrophy caused by mutations in the TTN gene. It affects muscle strength around the shoulders, hips and upper arms, usually beginning in childhood, adolescence or adulthood.
What is the role of the TTN gene?
The TTN gene provides instructions for producing titin, a large protein that contributes to the structural stability and elasticity of muscle fibres.
How is LGMD2J inherited?
LGMD2J is inherited in an autosomal recessive pattern, meaning both copies of the TTN gene must be altered for the disease to manifest. Carriers have a single mutation and may be asymptomatic.
What is tested in this NGS Genetic Test?
This test uses next-generation sequencing (NGS) to analyse the TTN gene coding regions and exon-intron boundaries for pathogenic variants linked to LGMD2J.
What is the cost of the TTN gene LGMD2J NGS Genetic Test?
The price is INR 20,000, which includes free home sample collection at the discounted rate for online bookings. The test is available across India.
What sample is needed?
The test can be performed on blood, extracted DNA, or one drop of blood spotted on an FTA card. Your healthcare provider will guide you on the preferred sample.
Do I need to fast before this test?
No, fasting is not required for this genetic test.
How long will my report take?
The clinical report is typically ready in 3 to 4 weeks after the sample is received by the laboratory.
Will I receive the raw data files?
Yes. DNA Labs India is transparent and provides raw data, FASTQ and VCF files along with the final clinical test report.
Can this test detect all TTN mutations?
This NGS test detects single-nucleotide variants, small insertions/deletions and splice-site variants in the TTN gene. Very large structural rearrangements or certain deep intronic mutations may not be captured by this test.
Who should consider this test?
Individuals with clinical features of LGMD, elevated creatine kinase, a family history of LGMD2J, or those who require carrier testing and genetic counselling may consider this test.
How should the results be interpreted?
Results should always be interpreted by a clinical geneticist or neurologist in the context of the patient's symptoms, family pedigree and other laboratory findings. Genetic counselling is recommended before and after testing.
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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