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SGCG Gene Limb-girdle muscular dystrophy, autosomal recessive type 2C NGS Genetic Test

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SGCG Gene Limb-girdle muscular dystrophy, autosomal recessive type 2C NGS Genetic Test

Short Name: SGCG Gene LGMD2C NGS Test

Also known as: LGMD2C, Gamma-sarcoglycanopathy, Sarcoglycanopathy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C, DMDA2

SGCG Gene Limb-girdle muscular dystrophy, autosomal recessive type 2C NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required), ACMG/AMP Variant Classification on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.

NGS Genetic TestUnisexAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the SGCG Gene Limb-girdle Muscular Dystrophy Type 2C NGS Genetic Test is to identify pathogenic mutations in the SGCG gene responsible for autosomal recessive limb-girdle muscular dystrophy type 2C. This test enables definitive molecular diagnosis in symptomatic individuals, carrier testing in at-risk family members, prenatal or preimplantation genetic diagnosis for affected families, genotype-phenotype correlation for prognosis estimation, differentiation from other forms of muscular dystrophy, and guidance for surveillance and management of associated cardiac and respiratory complications.

Test Code
1684
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
3 to 4 Weeks from sample receipt at the laboratory
Fasting Required
No
Method
Next Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required), ACMG/AMP Variant Classification
Step 1

Sample Collection

Ensure the patient or referring physician provides detailed clinical history and a pedigree chart of affected family members. A pre-test genetic counseling session is recommended to discuss the implications of testing, potential outcomes, and informed consent requirements.

Method: Venipuncture or Finger-prick (FTA Card)

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA tube or a single drop of blood on an FTA card. The sample will be labeled, sealed, and transported under ambient room temperature conditions to the laboratory.

Step 3

Report Delivery

No specific post-collection care is required. The patient may resume normal activities immediately after blood draw. Results will be available in 3 to 4 weeks and will be shared via online portal, email, and/or WhatsApp.

Timeline: 3 to 4 Weeks from sample receipt at the laboratory

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is recommended to discuss the purpose, benefits, limitations, and implications of the test. Clinical history of the patient, including onset of symptoms, progression, family history, and any previous investigations (such as CK levels, EMG, or muscle biopsy), should be documented. A pedigree chart of family members affected with LGMD or similar neuromuscular conditions should be prepared. Informed consent must be obtained.
2
During the Test:A blood sample of 3-5 mL is collected via venipuncture into an EDTA tube, or a single drop of blood is placed on an FTA card. No fasting is required. The sample is transported to the laboratory at ambient room temperature. In the laboratory, DNA is extracted and subjected to targeted Next Generation Sequencing of the SGCG gene.
3
After the Test:After sample collection, patients can resume normal activities immediately. The DNA is sequenced using NGS technology, and identified variants are classified per ACMG guidelines. Results are available in 3 to 4 weeks and delivered via online portal, email, and/or WhatsApp. A post-test genetic counseling session is recommended to interpret the results and discuss implications for the patient and family members.

About This Test

Who Should Get This Test

The purpose of the SGCG Gene Limb-girdle Muscular Dystrophy Type 2C NGS Genetic Test is to identify pathogenic mutations in the SGCG gene responsible for autosomal recessive limb-girdle muscular dystrophy type 2C. This test enables definitive molecular diagnosis in symptomatic individuals, carrier testing in at-risk family members, prenatal or preimplantation genetic diagnosis for affected families, genotype-phenotype correlation for prognosis estimation, differentiation from other forms of muscular dystrophy, and guidance for surveillance and management of associated cardiac and respiratory complications.

How to Prepare

  • A pre-test genetic counseling session is recommended before sample collection
  • Collect 3-5 mL venous blood in an EDTA (lavender-top) tube or use an FTA card for one-drop blood collection
  • Label the sample clearly with patient name, date of birth, and unique identifier
  • Transport the sample at ambient room temperature to the laboratory
  • No fasting is required prior to sample collection
  • If using extracted DNA, ensure a minimum concentration of 20 ng/µL and A260/280 ratio of 1.8-2.0

Doctor's Notes

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

"Limb-girdle muscular dystrophy type 2C caused by SGCG gene mutations is a progressive neuromuscular condition that often presents in childhood with proximal muscle weakness affecting the hip and shoulder girdle. Early genetic confirmation through NGS-based testing is invaluable for establishing a definitive diagnosis, differentiating LGMD2C from other muscular dystrophies, guiding surveillance for cardiac and respiratory complications, and enabling informed family planning through carrier detection. I recommend genetic testing at the earliest clinical suspicion to optimize patient outcomes and facilitate access to emerging therapies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3-5 mL whole blood
ContainerEDTA (Lavender-top) tube or FTA Card
Collection MethodVenipuncture or Finger-prick (FTA Card)

Sample Stability

Whole blood in EDTA tube at ambient temperature
Whole blood in EDTA tube at 2-8°C
Extracted DNA at -20°C
Blood on FTA card at ambient temperature
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Sample collected in incorrect anticoagulant (e.g., heparin tube instead of EDTA)
  • Insufficient sample volume
  • Sample without proper labeling or identification
  • Contaminated or leaking sample container
  • Extracted DNA with concentration below 10 ng/µL or A260/280 ratio outside 1.7-2.1 range

Understanding Your Results

The NGS Genetic Test for the SGCG gene identifies variants across the entire coding region and flanking intronic sequences. Results are classified according to the American College of Medical Genetics and Genomics (ACMG) 2015 guidelines into five categories: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, and Benign. Identification of two pathogenic or likely pathogenic variants in the SGCG gene in trans confirms a molecular diagnosis of LGMD2C. A positive result in a symptomatic individual supports clinical diagnosis and guides management. Carrier testing for family members is recommended following identification of pathogenic variants. Genetic counseling is strongly advised for all individuals tested.
📊

Confirms molecular diagnosis of LGMD2C. Recommend cardiac screening (echocardiography), pulmonary function testing, and referral to a neuromuscular specialist for ongoing management.

📊

Individual is a carrier for LGMD2C. Carrier testing for partner recommended if family planning is relevant. A second variant may be missed if located in deep intronic or regulatory regions.

📊

Cannot confirm or exclude diagnosis based on genetic result alone. Clinical correlation, family segregation studies, and functional studies may be needed. Re-analysis of data may be warranted in the future.

📊

Does not exclude LGMD2C if mutations lie outside covered regions (e.g., deep intronic, large rearrangements). Consider MLPA for copy number analysis and testing of other LGMD-associated genes based on clinical presentation.

📊

These variants are not associated with disease. No molecular diagnosis of LGMD2C confirmed. Clinical evaluation and consideration of alternative diagnoses recommended.

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if you or your child experiences progressive muscle weakness in the hips and shoulders, difficulty walking or climbing stairs, frequent falls, waddling gait, calf hypertrophy, elevated creatine kinase levels, or if there is a family history of muscular dystrophy. Early consultation is especially important if respiratory difficulties or cardiac symptoms develop.

Limitations

  • ⚠This test does not detect large deletions, duplications, or structural rearrangements in the SGCG gene; MLPA or array CGH may be required for such variants
  • ⚠Deep intronic mutations, regulatory region variants, and mitochondrial DNA variants are not covered by this targeted NGS panel
  • ⚠Variants of uncertain significance (VUS) may be identified and cannot be definitively classified as disease-causing at the time of reporting
  • ⚠A negative result does not completely exclude LGMD2C if mutations lie outside the sequenced regions or if the condition is caused by a different gene
  • ⚠Results should always be interpreted in the context of clinical findings, family history, and other laboratory investigations

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site
  • ●Risk of vasovagal syncope during blood draw (rare)
  • ●Possible identification of variants of uncertain significance (VUS) causing anxiety
  • ●Potential psychological impact of a positive diagnosis on the patient and family
  • ●Risk of incidental carrier status findings with implications for reproductive planning

Interfering Factors

  • ●Degraded or insufficient DNA quality from the sample may affect sequencing coverage
  • ●Recent blood transfusion (within 4-6 weeks) may interfere with results if whole blood is used
  • ●Presence of large genomic rearrangements or copy number variants not detectable by standard NGS may require additional testing such as MLPA
  • ●Pseudogene interference in specific genomic regions may complicate variant calling

Compare With Similar Tests

TestSGCG Gene Limb-girdle muscular dystrophy, autosomal recessive type 2C NGS Genetic TestDystrophin (DMD) Gene NGS Genetic TestSGCA Gene NGS Genetic Test (LGMD2D)LGMD Comprehensive Gene PanelMLPA for SGCG Gene Deletions/DuplicationsSerum Creatine Kinase (CK) Test
ComparisonSGCG Gene Limb-girdle muscular dystrophy, autosomal recessive type 2C NGS Genetic Test

Frequently Asked Questions

What is SGCG Gene Limb-girdle Muscular Dystrophy Type 2C (LGMD2C)?
LGMD2C is a rare autosomal recessive neuromuscular disorder caused by mutations in the SGCG gene. This gene encodes gamma-sarcoglycan, a protein essential for maintaining the structural integrity of muscle fibers. Mutations lead to progressive muscle weakness primarily affecting the hip and shoulder girdle muscles, with onset typically in childhood or adolescence.
How is LGMD2C inherited?
LGMD2C follows an autosomal recessive inheritance pattern. This means both parents are typically unaffected carriers who each carry one mutated copy of the SGCG gene. Each child of two carriers has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier.
What are the main symptoms of LGMD2C?
Common symptoms include progressive muscle weakness in the hips, thighs, and shoulders; difficulty walking, running, and climbing stairs; frequent falls; waddling gait; lordosis (abnormal curvature of the lower spine); calf hypertrophy; difficulty rising from the floor (Gower's sign); and in severe cases, respiratory insufficiency and cardiac involvement.
What is Next Generation Sequencing (NGS) and why is it used for this test?
Next Generation Sequencing (NGS) is an advanced DNA sequencing technology that can rapidly and accurately read millions of DNA fragments simultaneously. For the SGCG gene test, NGS sequences the entire coding region and flanking intronic regions to identify point mutations, small insertions, and deletions with high sensitivity (>99%).
What sample is required for the SGCG Gene NGS Genetic Test?
The test requires a blood sample (3-5 mL collected in an EDTA tube), extracted DNA, or a single drop of blood on an FTA card. No fasting is required. Free home sample collection is available across India through DNA Labs India.
How much does the SGCG Gene LGMD2C NGS Genetic Test cost?
The cost of the SGCG Gene LGMD2C NGS Genetic Test at DNA Labs India is INR 20,000. This price includes NGS sequencing, bioinformatics analysis, variant interpretation, a detailed clinical report, raw data files (FASTQ and VCF), and free home sample collection.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. The report is delivered via online portal, email, and/or WhatsApp for your convenience.
Can this test be used for carrier testing in family members?
Yes. Once pathogenic mutations are identified in an affected individual, targeted carrier testing can be offered to parents, siblings, and other at-risk family members to determine if they carry one copy of the SGCG mutation. Carrier testing helps inform family planning decisions.
What does a negative test result mean?
A negative result means no pathogenic or likely pathogenic variants were detected in the SGCG gene by NGS. However, this does not completely exclude LGMD2C, as large deletions, duplications, deep intronic mutations, or regulatory variants may not be detected by this method. MLPA or comprehensive gene panel testing may be recommended based on clinical suspicion.
Does DNA Labs India share raw genetic data files with patients?
Yes. DNA Labs India is committed to transparency and shares Raw Data files, FASTQ files, and VCF files along with the conclusive clinical report for the SGCG Gene LGMD2C NGS Genetic Test. This allows patients and their physicians to seek independent analysis or second opinions if desired.
Is free home sample collection available for this test?
Yes. DNA Labs India offers free home sample collection for online bookings of the SGCG Gene LGMD2C NGS Genetic Test across India, including major cities such as Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more locations nationwide.
What should I do if my child is diagnosed with LGMD2C?
If your child is diagnosed with LGMD2C, consult a neurologist specializing in neuromuscular disorders for a comprehensive management plan. This typically includes regular cardiac monitoring (echocardiography), pulmonary function testing, physiotherapy, occupational therapy, orthopedic support, and genetic counseling for the family. Early intervention can help optimize quality of life and manage complications.
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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