SGCA Gene Limb-girdle muscular dystrophy, autosomal recessive type 2D NGS Genetic Test
Short Name: LGMD2D SGCA Gene NGS Test
Also known as: LGMD2D Genetic Test, SGCA Gene Sequencing Test, Alpha-Sarcoglycan Gene Mutation Analysis, Sarcoglycan Alpha (SGCA) NGS Test, Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2D Genetic Test
SGCA Gene Limb-girdle muscular dystrophy, autosomal recessive type 2D NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the DNA Labs India online portal, via email, and optionally via WhatsApp. Urgent cases may be accommodated upon prior request; please contact DNA Labs India for expedited processing options.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the SGCA Gene Limb-girdle Muscular Dystrophy Type 2D NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SGCA gene that cause autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D). This test confirms a clinical or biochemical suspicion of alpha-sarcoglycanopathy, differentiates LGMD2D from other muscular dystrophies and myopathies, provides a definitive molecular diagnosis to guide clinical management and surveillance, enables accurate carrier testing and genetic counselling for family members, and helps assess eligibility for current or emerging gene-specific therapeutic interventions and clinical trials.
- Test Code
- 1685
- CPT Code
- 81405
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the DNA Labs India online portal, via email, and optionally via WhatsApp. Urgent cases may be accommodated upon prior request; please contact DNA Labs India for expedited processing options.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing
Sample Collection
A genetic counselling session is strongly recommended prior to sample collection to obtain informed consent, document a detailed clinical history of the patient, and draw a pedigree chart of family members affected with or at risk for SGCA Gene Limb-girdle Muscular Dystrophy Type 2D. No fasting is required. Ensure the patient is well-hydrated. Inform the lab of any recent blood transfusions or prior genetic testing.
Method: Venipuncture
Laboratory Analysis
A peripheral blood sample of 3–5 mL is collected via venipuncture into an EDTA (lavender-top) tube under aseptic conditions. Alternatively, one drop of blood on an FTA card or pre-extracted DNA may be submitted. The sample is labelled with two unique patient identifiers and stored at ambient room temperature until dispatch to the laboratory.
Report Delivery
The blood sample or FTA card is transported to the DNA Labs India facility at ambient room temperature. The extracted DNA undergoes NGS library preparation, sequencing, bioinformatic analysis, and variant interpretation. A comprehensive clinical report with raw data files (FASTQ and VCF) is generated and shared within 3 to 4 weeks. Post-test genetic counselling is recommended to interpret the findings and discuss implications for the patient and family members.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the DNA Labs India online portal, via email, and optionally via WhatsApp. Urgent cases may be accommodated upon prior request; please contact DNA Labs India for expedited processing options.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SGCA Gene Limb-girdle Muscular Dystrophy Type 2D NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SGCA gene that cause autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D). This test confirms a clinical or biochemical suspicion of alpha-sarcoglycanopathy, differentiates LGMD2D from other muscular dystrophies and myopathies, provides a definitive molecular diagnosis to guide clinical management and surveillance, enables accurate carrier testing and genetic counselling for family members, and helps assess eligibility for current or emerging gene-specific therapeutic interventions and clinical trials.
How to Prepare
- Collect 3–5 mL of peripheral blood in an EDTA (lavender-top) vacutainer tube via standard venipuncture technique
- Alternatively, submit one drop of blood on an FTA card or pre-extracted genomic DNA
- Label the sample with two unique patient identifiers: full name and date of birth or unique ID number
- Ensure the EDTA tube is gently inverted 8–10 times immediately after collection to prevent clotting
- Store and transport the sample at ambient room temperature (15–30°C); do not freeze or refrigerate the blood sample
- Ship the sample to the laboratory within 48 hours of collection for optimal DNA quality
- Include the completed test requisition form, signed informed consent, and relevant clinical history with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a neurologist managing patients with progressive proximal muscle weakness, I frequently encounter limb-girdle muscular dystrophies that clinically mimic other myopathies. The SGCA Gene NGS Test is invaluable when I suspect a sarcoglycanopathy based on elevated creatine kinase levels, calf pseudohypertrophy, and a pattern of shoulder and hip girdle weakness. Accurate molecular confirmation through NGS allows me to differentiate LGMD2D from Duchenne, Becker, and other LGMD subtypes, which directly influences prognosis, surveillance strategies, cardiac monitoring, and genetic counselling for the patient's family. I recommend this test for any patient presenting with unexplained progressive proximal myopathy, especially with an autosomal recessive family pattern."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample in an EDTA tube
- Severely haemolysed or lipaemic blood sample
- Insufficient sample volume (less than 2 mL)
- Sample collected in an incorrect tube type (e.g., heparin tube, which can inhibit PCR and NGS reactions)
- Sample without proper labelling or patient identifiers
- Sample older than 72 hours at ambient temperature without documented stability data
- Missing or incomplete test requisition form or informed consent
Understanding Your Results
No Pathogenic Variants Detected
No pathogenic or likely pathogenic mutations were identified in the coding exons and flanking intronic regions of the SGCA gene. This result does not exclude LGMD caused by mutations in other genes, deep intronic variants, or large structural rearrangements not detectable by NGS. Clinical correlation and consideration of expanded gene panel testing or alternative diagnostic approaches are recommended.
Pathogenic Variant(s) Detected — Homozygous
One or more homozygous pathogenic variants were identified in the SGCA gene, confirming a diagnosis of LGMD2D (alpha-sarcoglycanopathy). This is consistent with autosomal recessive inheritance. Both parents are expected to be heterozygous carriers. Genetic counselling for the family, cardiac surveillance, respiratory monitoring, and referral to a neuromuscular specialist are recommended.
Pathogenic Variant(s) Detected — Compound Heterozygous
Two different pathogenic or likely pathogenic variants were identified in the SGCA gene in trans configuration (on different alleles), confirming a diagnosis of LGMD2D. Each parent is expected to carry one of the variants. Genetic counselling for the family and targeted carrier testing for at-risk relatives are recommended.
Likely Pathogenic Variant(s) Detected
One or more likely pathogenic variants were identified in the SGCA gene. Strong evidence supports a disease-causing role, but additional clinical correlation, family segregation studies, or functional data may further strengthen the classification. A diagnosis of LGMD2D is highly probable. Genetic counselling and clinical follow-up are recommended.
Variant of Uncertain Significance (VUS) Detected
One or more variants of uncertain significance were identified in the SGCA gene. The available evidence is insufficient to classify the variant as pathogenic or benign at this time. This result is not diagnostic. Family segregation analysis, additional functional studies, and periodic reclassification as new databases and literature evolve are recommended. Clinical management should be based on the overall clinical picture.
Only One Pathogenic Variant Detected in a Recessive Gene
Only one pathogenic or likely pathogenic variant was identified in the SGCA gene. For autosomal recessive conditions, two pathogenic variants (one on each allele) are typically required to cause disease. The second variant may reside in a region not covered by this test (e.g., deep intronic, regulatory) or may be a large deletion/duplication. MLPA or other complementary testing may be considered. Carrier status for the identified variant is confirmed.
Consult a neurologist or neuromuscular specialist if you or your child experience progressive muscle weakness in the hips or shoulders, difficulty walking or climbing stairs, frequent falls, calf muscle enlargement, difficulty raising the arms above the head, elevated creatine kinase levels on routine blood tests, or if there is a family history of muscular dystrophy or consanguinity. Early diagnosis through genetic testing enables timely management, cardiac and respiratory surveillance, physiotherapy planning, genetic counselling for family members, and potential eligibility for gene-targeted therapeutic trials.
Limitations
- ⚠This test targets the coding exons and flanking intronic regions of the SGCA gene only; deep intronic, regulatory, or promoter variants may not be detected
- ⚠Large deletions or duplications involving the SGCA gene may require additional techniques such as MLPA or array CGH for confirmation
- ⚠A negative result does not completely exclude LGMD if mutations reside in other causative genes (e.g., SGCB, SGCD, SGCG, DAG1, and others)
- ⚠Variants of Uncertain Significance (VUS) may be reported; clinical significance may change as new evidence emerges
- ⚠This test does not assess mitochondrial DNA variants or trinucleotide repeat expansions
- ⚠Mosaicism at very low levels may not be reliably detected
Risks & Considerations
- ●Mild pain or discomfort at the venipuncture site during blood collection
- ●Minor bruising or haematoma at the puncture site, which typically resolves within a few days
- ●Very rare risk of infection at the collection site (standard aseptic techniques minimise this risk)
- ●Fainting or lightheadedness in individuals with needle phobia (inform the phlebotomist beforehand)
- ●Psychological distress related to receiving a genetic diagnosis; genetic counselling is provided to mitigate this
- ●Identification of variants of uncertain significance (VUS) may cause anxiety without clear clinical guidance; post-test counselling is recommended
Interfering Factors
- ●Recent blood transfusion within the past 30 days may affect DNA purity and variant calling accuracy
- ●Degraded or insufficient DNA yield from improperly stored samples
- ●Contamination during sample collection or transport may compromise NGS library preparation
- ●Haemolysed blood samples may reduce DNA quality and sequencing performance
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Frequently Asked Questions
What is the SGCA Gene Limb-girdle Muscular Dystrophy Type 2D (LGMD2D) NGS Genetic Test?
What causes Limb-girdle Muscular Dystrophy Type 2D (LGMD2D)?
What are the symptoms of LGMD2D?
How is LGMD2D diagnosed?
What sample is required for the SGCA Gene NGS Test?
What is the cost of the SGCA Gene NGS Genetic Test in India?
How long does it take to get the results of this genetic test?
Is LGMD2D hereditary, and can carriers be tested?
Can LGMD2D be treated or cured?
Who should get tested for the SGCA Gene?
Does DNA Labs India provide raw data files with the test report?
Is home sample collection available for this genetic test?
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