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TRAPPC11 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2S NGS Genetic Test

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TRAPPC11 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2S NGS Genetic Test

Short Name: TRAPPC11 LGMD2S NGS Test

Also known as: LGMD2S Genetic Test, TRAPPC11 Gene Mutation Test, Limb-Girdle Muscular Dystrophy Type 2S NGS Test

TRAPPC11 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2S 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 issued within 3 to 4 weeks after the sample reaches the laboratory. Urgent analysis may be available upon special request.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To identify pathogenic variants in the TRAPPC11 gene that cause Limb-girdle muscular dystrophy, autosomal recessive type 2S (LGMD2S). This test aids in diagnosing the condition, guiding genetic counselling, and facilitating appropriate clinical management.

Test Code
4211
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks after the sample reaches the laboratory. Urgent analysis may be available upon special request.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. A genetic counselling session is recommended to discuss the implications of the test and to draw a family pedigree.

Method: Peripheral blood draw or FTA card spot

Step 2

Laboratory Analysis

A small amount of blood will be collected by a trained phlebotomist. For FTA card samples, one drop of blood from a finger prick is spotted onto the card.

Step 3

Report Delivery

You may resume normal activities immediately. The FTA card should be allowed to air dry and stored in a protective sleeve. Blood samples should be transported to the laboratory at ambient temperature.

Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory. Urgent analysis may be available upon special request.

Patient Instructions

1
Before the Test:A clinical history and genetic counselling session is recommended before the test. No dietary or lifestyle modifications are required.
2
During the Test:The test involves a simple blood draw or FTA card sample. No anesthesia is required. The entire process takes about 5-10 minutes.
3
After the Test:You can leave the collection center immediately after sampling. Results will be shared via email and online portal within 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify pathogenic variants in the TRAPPC11 gene that cause Limb-girdle muscular dystrophy, autosomal recessive type 2S (LGMD2S). This test aids in diagnosing the condition, guiding genetic counselling, and facilitating appropriate clinical management.

How to Prepare

  • Ensure proper patient identification on the sample
  • For blood samples, use an EDTA vacutainer and avoid hemolysis
  • For FTA card, spot one full drop of blood and allow to dry completely before sealing
  • Ship sample to the laboratory within 24-48 hours

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for TRAPPC11 gene mutations is essential to confirm LGMD2S. Early and accurate diagnosis enables appropriate genetic counselling, family planning, and proactive clinical management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral blood draw or FTA card spot

Sample Stability

Whole blood in EDTA: 24-48 hours at ambient temperature
Extracted DNA: 1 week at 4°C or long-term at -20°C
FTA card: stable for months at room temperature
Sample Rejection Criteria:
  • Clotted or hemolyzed blood
  • Insufficient quantity of sample
  • Mislabeled or unlabeled samples
  • Samples received in inappropriate containers

Understanding Your Results

The result of this NGS test is reported after sequence analysis of the TRAPPC11 coding exons and intron-exon boundaries. The interpretation is based on the presence or absence of pathogenic or likely pathogenic variants.
Positive for a pathogenic variant: Confirms the molecular diagnosis of LGMD2S.
Variant of unknown significance (VUS): Requires further family segregation studies and functional analysis.
Negative result: Reduces but does not entirely exclude LGMD2S; other genetic causes should be considered.
⚠️ When to Consult a Doctor:

If you or your child experience unexplained muscle weakness, recurrent falls, difficulty climbing stairs, or have a family history of LGMD, consult a neurologist or clinical geneticist for evaluation and appropriate testing.

Limitations

  • ⚠NGS may not detect large structural variants, repeat expansions, deep intronic mutations, or mitochondrial mutations
  • ⚠Results should be interpreted in the context of clinical findings
  • ⚠Variants of unknown significance may require additional familial segregation studies

Risks & Considerations

  • ●Minimal risk of bruising or discomfort at the blood draw site
  • ●No radiation or chemical exposure
  • ●Psychological stress due to potential genetic findings – genetic counselling is recommended

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination
  • ●Incorrect sample collection or labeling

Frequently Asked Questions

What is the TRAPPC11 gene and how is it related to LGMD type 2S?
The TRAPPC11 gene provides instructions for making a protein involved in membrane trafficking within cells. Mutations in this gene cause autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S), a condition characterized by muscle weakness and wasting in the shoulders, hips, and proximal limbs.
What are the symptoms of LGMD type 2S?
Symptoms typically appear in early childhood or adolescence and may include muscle weakness in the shoulders, hips, and upper arms and legs, difficulty climbing stairs, rising from a seated position, toe-walking, waddling gait, frequent falls, and difficulty raising the arms above the head.
How is LGMD type 2S diagnosed?
LGMD type 2S is diagnosed through clinical evaluation, family history, creatine kinase levels, and confirmed by genetic testing. Next-generation sequencing (NGS) is the most common method, allowing analysis of multiple genes simultaneously.
What is NGS genetic testing and how is it used for TRAPPC11?
Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can analyze multiple genes at once. For TRAPPC11, NGS specifically reads the coding regions and splice sites of the gene to detect pathogenic variants associated with LGMD2S.
Who should consider getting this TRAPPC11 NGS genetic test?
Individuals with symptoms suggesting limb-girdle muscular dystrophy, those with a family history of LGMD, and couples planning a family where one partner is known to carry a TRAPPC11 mutation should consider this test. It is also useful for prenatal diagnosis and carrier screening.
What is the cost of the TRAPPC11 gene test at DNA Labs India?
The cost of the TRAPPC11 gene NGS genetic test at DNA Labs India is Rs 20000. This includes home sample collection, NGS analysis, clinical report, and raw data files (FASTQ, VCF).
What type of sample is needed for the test?
The sample can be either blood (collected in an EDTA vacuette), extracted DNA, or one drop of blood spotted on an FTA card. The FTA card method is convenient for home collection and does not require cold storage.
How long does it take to get the results?
The test reports are typically available within 3 to 4 weeks after the sample reaches the laboratory. DNA Labs India delivers reports via online portal, email, and WhatsApp.
Will I receive raw data files along with the clinical report?
Yes, DNA Labs India is transparent and provides raw data including FASTQ and VCF files along with the conclusive clinical report. This allows clinicians and geneticists to perform further analysis if needed.
Can this test detect other types of muscular dystrophy?
No, this specific test is targeted at the TRAPPC11 gene only. However, DNA Labs India offers comprehensive LGMD panels and other neuromuscular disorder NGS panels that can analyze multiple genes simultaneously if a broader evaluation is required.
Is genetic counselling recommended before testing?
Yes, genetic counselling is strongly recommended before undergoing this test. It helps individuals understand the implications, inheritance pattern, potential outcomes, and the emotional and family impact of the results. DNA Labs India provides counselling sessions to draw a family pedigree and guide the testing process.
Are there any lifestyle restrictions before the test?
No fasting or special preparation is required. You can continue your regular diet and lifestyle. However, it is advisable to bring details of any clinical symptoms and family history of muscular dystrophy to the consultation.
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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