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TCAP Gene Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G NGS Genetic Test

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TCAP Gene Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G NGS Genetic Test

Short Name: TCAP LGMD2G NGS Test

Also known as: TCAP gene sequencing for LGMD2G, Autosomal recessive limb-girdle muscular dystrophy type 2G genetic test, TCAP mutation analysis

TCAP Gene Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G 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 typically delivered in 3 to 4 weeks from the date the sample is received in the laboratory.. 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

The purpose of this test is to detect pathogenic mutations in the TCAP gene, confirming the diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2G. Early molecular diagnosis supports timely clinical management, symptom surveillance, genetic counselling of at-risk family members, and informed reproductive decisions.

Test Code
4202
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered in 3 to 4 weeks from the date the sample is received in the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation such as fasting is required. However, a pre-test genetic counselling session is recommended to review the family history and draw a pedigree. Patients should bring any prior clinical records, muscle biopsy results, or cardiac evaluation reports if available.

Method: Venipuncture / FTA card spot

Step 2

Laboratory Analysis

For a blood sample, a standard venipuncture will be performed by a trained technician. If an FTA card is used, a simple finger-prick blood spot is collected. The process is quick and minimally invasive.

Step 3

Report Delivery

Patients can resume their regular activities immediately after sample collection. The sample will be securely transported to the laboratory under controlled temperature, and the report will be available in 3 to 4 weeks.

Timeline: Reports are typically delivered in 3 to 4 weeks from the date the sample is received in the laboratory.

Patient Instructions

1
Before the Test:A pre-test genetic counselling session is recommended to draw a pedigree and discuss the benefits, risks, and clinical utility of the test. Please share any personal or family history of muscle disease with the counsellor.
2
During the Test:The NGS genetic test involves DNA extraction, library preparation, targeted sequencing of the TCAP gene, and bioinformatics data analysis. The patient may need to provide a blood sample or FTA card spot. The process is safe and routine.
3
After the Test:After the sample is received, the laboratory will process it and send the report within 3 to 4 weeks. Patients should schedule a post-test genetic counselling session to understand the results, recurrence risk, and available management options.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the TCAP gene, confirming the diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2G. Early molecular diagnosis supports timely clinical management, symptom surveillance, genetic counselling of at-risk family members, and informed reproductive decisions.

How to Prepare

  • A valid referral or prescription from a neurologist/geneticist may be required.
  • Informed consent for genetic testing is mandatory.
  • Please provide clinical history, pedigree information, and prior CK or muscle biopsy reports, if any.
  • For FTA card, ensure the dried blood spot is not contaminated or exposed to moisture.

Doctor's Notes

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

"Genetic confirmation is vital for accurate risk assessment and family counselling. This NGS test provides a clear molecular diagnosis for LGMD2G, enabling proactive management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Whole blood: 48 hours at room temperature (15-25°C)
Whole blood: 7 days at 2-8°C
Extracted DNA: 6 months at -20°C
FTA card: stable at room temperature for up to 6 months
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Insufficient sample quantity
  • Sample received in a wrong or non-sterile container
  • Mislabeled or unlabeled sample
  • FTA card with insufficient blood spots

Understanding Your Results

The test report will list any pathogenic or likely pathogenic variants identified in the TCAP gene. A negative result significantly reduces the likelihood of TCAP-related LGMD2G, but does not exclude other genetic causes of limb-girdle muscular dystrophy. The interpretation is based on the latest ACMG/AMP guidelines.
📊

Confirms the molecular diagnosis of autosomal recessive LGMD type 2G.

📊

No disease-causing mutation was found; another LGMD subtype should be considered.

📊

The clinical significance is unclear; additional family testing/research studies may be needed.

📊

Indicates carrier status; individual may not show symptoms but can pass the variant to children.

⚠️ When to Consult a Doctor:

If you experience progressive muscle weakness, difficulty walking, or have a family history of limb-girdle muscular dystrophy, consult a neurologist or clinical geneticist. Genetic counselling is strongly advised before and after the test to understand implications for you and your family.

Limitations

  • ⚠This test only analyses the TCAP gene. Other LGMD-related genes are not evaluated.
  • ⚠NGS may not detect large deletion/duplication events, intronic variants far from splice sites, or regulatory region mutations.
  • ⚠Variants of uncertain significance (VUS) may require additional testing and family segregation studies.
  • ⚠Diagnostic yield depends on clinical presentation and ethnic origin.

Risks & Considerations

  • ●Bruising at the site of venipuncture
  • ●Lightheadedness or dizziness during blood collection
  • ●Very low risk of infection or bleeding
  • ●Emotional/psychological impact of receiving genetic results

Interfering Factors

  • ●Sample quality and DNA degradation
  • ●Sample contamination with another individual’s DNA
  • ●Rare benign variants that complicate interpretation
  • ●Large deletions or duplications may not be detected by standard NGS
  • ●Phenocopies due to mutations in other LGMD genes

Compare With Similar Tests

TestTCAP Gene Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G NGS Genetic Test
ComparisonTCAP Gene Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G NGS Genetic Test

Frequently Asked Questions

What is TCAP Gene Limb-Girdle Muscular Dystrophy type 2G?
TCAP gene-related LGMD2G is a rare autosomal recessive muscular dystrophy caused by mutations in the TCAP gene. It affects the proximal muscles around the hips and shoulders, leading to weakness, difficulty walking, and fatigue.
What are the common symptoms of TCAP gene LGMD2G?
Common symptoms include muscle weakness in the hips and shoulders, difficulty standing up or climbing stairs, frequent falls, lifting difficulty, increased fatigue, and reduced range of motion. Onset varies from childhood to adulthood.
How is TCAP gene LGMD2G diagnosed?
Diagnosis involves a physical exam, serum CK test, EMG, muscle biopsy, and genetic testing. NGS genetic testing for the TCAP gene is the most definitive method to confirm the diagnosis.
What is the cost of the TCAP NGS genetic test at DNA Labs India?
The test costs INR 20,000. It includes NGS sequencing of the TCAP gene, raw data files, clinical report, and pre-test genetic counselling. Free home sample collection is available for online bookings across major cities in India.
What sample is required for the test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card. The sample collection is simple and does not require fasting.
How long does it take to get results?
The turnaround time is 3 to 4 weeks. Reports are shared via online portal, email, and WhatsApp. Raw data files (FASTQ and VCF) are provided along with the clinical report.
Why does DNA Labs India share raw data with the report?
Transparency is a key principle. Sharing raw data (FASTQ, VCF) allows patients and other specialists to re-analyse or reinterpret the genetic data if needed, ensuring maximal diagnostic utility.
Is pre-test genetic counselling required?
Yes, a genetic counselling session is recommended to draw a pedigree and understand the clinical history. This helps in result interpretation and discussing implications for family members.
Can this test detect carriers of TCAP mutations?
Yes, the NGS test can identify heterozygous pathogenic variants, which indicate carrier status. Carriers typically do not show symptoms, but they can pass the variant to their children.
Does a negative result rule out all LGMD subtypes?
No, this test only looks at the TCAP gene. A negative result reduces the likelihood of TCAP-related LGMD2G, but other genes like CAPN3, DYSF, and sarcoglycan genes may need to be tested.
Can the test detect large deletions or duplications?
The standard NGS test primarily detects single-nucleotide variants, small insertions/deletions, and splice-site variants. Large deletions/duplications may not be detected and require additional tests like MLPA or CGH array.
How should I prepare for the test?
No special preparation like fasting is needed. Please bring any prior medical reports, muscle biopsy results, or CK levels. Contact the laboratory for any specific instructions and scheduling of home sample collection.
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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