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SGCB Gene Limb-girdle muscular dystrophy, autosomal recessive type 2E NGS Genetic Test

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SGCB Gene Limb-girdle muscular dystrophy, autosomal recessive type 2E NGS Genetic Test

Short Name: SGCB LGMD2E NGS Test

Also known as: LGMD2E Genetic Test, SGCB Gene Sequencing, Beta-sarcoglycan Gene Test

SGCB Gene Limb-girdle muscular dystrophy, autosomal recessive type 2E NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or Blood on FTA Card samples. Results in 3 to 4 weeks after sample received.. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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 this test is to identify pathogenic variants in the SGCB gene that cause LGMD2E, thereby confirming the diagnosis, enabling carrier testing, and supporting informed reproductive decisions.

Test Code
4199
Price
₹20,000
Sample Type
Blood or Extracted DNA or Blood on FTA Card
Result Time
3 to 4 weeks after sample received.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. A genetic counselling session is recommended before the test to draw a pedigree and understand the implications.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. If using an FTA card, a drop of blood is applied to the designated area.

Step 3

Report Delivery

Sample should be stored as per laboratory instructions. Ensure the report is received after 3-4 weeks.

Timeline: 3 to 4 weeks after sample received.

Patient Instructions

1
Before the Test:No special preparation is required. A genetic counselling session is recommended before the test to draw a pedigree and understand the implications.
2
During the Test:A blood sample will be collected by a trained phlebotomist. If using an FTA card, a drop of blood is applied to the designated area.
3
After the Test:Sample should be stored as per laboratory instructions. Ensure the report is received after 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the SGCB gene that cause LGMD2E, thereby confirming the diagnosis, enabling carrier testing, and supporting informed reproductive decisions.

How to Prepare

  • For blood collection, use an EDTA tube
  • For FTA card, apply a single drop of blood to the marked circle
  • Label the sample clearly with patient name, date, and ID
  • Ship the sample at room temperature if within 24 hours; otherwise refrigerate at 2-8°C

Doctor's Notes

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

"Genetic testing for LGMD2E is important for reproductive planning and management. Couples with a family history should seek genetic counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or Blood on FTA Card
Sample VolumeBlood: 5 mL; FTA Card: 1 spot
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Whole blood (EDTA): stable for 72 hours at 2-8°C
Extracted DNA: stable for 1 year at -20°C
FTA card: stable for 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient quantity of blood
  • Improperly labeled sample

Understanding Your Results

Results should be interpreted by a clinical geneticist or genetic counselor. Variants are classified based on ACMG guidelines.
📊

Positive - a pathogenic variant detected

📊

Negative - no pathogenic variant detected

📊

Variant of Uncertain Significance (VUS)

⚠️ When to Consult a Doctor:

If you or a family member have symptoms such as progressive muscle weakness, difficulty walking, frequent falls, or a known family history of LGMD, consult a neurologist or genetic specialist.

Limitations

  • ⚠This test is specific to SGCB gene; mutations in other LGMD-related genes will not be detected
  • ⚠Large deletions or duplications may not be identified by standard NGS; additional analysis may be required
  • ⚠Variant of uncertain significance may require further family studies

Risks & Considerations

  • ●Slight pain or bruising at injection site
  • ●In rare cases, dizziness or infection

Interfering Factors

  • ●Presence of pseudogenes or homologous regions may affect variant calling
  • ●Sample contamination with foreign DNA
  • ●Degraded DNA due to improper handling

Frequently Asked Questions

What is LGMD2E?
LGMD2E (Limb-girdle muscular dystrophy type 2E) is an inherited neuromuscular disorder caused by mutations in the SGCB gene. It leads to progressive weakness and wasting of muscles around the hips and shoulders.
What is the SGCB gene?
The SGCB gene encodes beta-sarcoglycan, a protein that helps maintain the structural integrity of muscle cells. Mutations in this gene cause LGMD2E.
How is LGMD2E inherited?
LGMD2E is inherited in an autosomal recessive pattern, meaning both copies of the SGCB gene must be mutated for the disease to manifest.
What are the symptoms of LGMD2E?
Symptoms usually appear in childhood or adolescence and include muscle weakness and wasting in hips and shoulders, difficulty walking, climbing stairs, frequent falls, and possibly cardiomyopathy.
How is LGMD2E diagnosed?
Diagnosis is based on clinical examination, muscle biopsy, and genetic testing to identify SGCB gene mutations.
What is the cost of the SGCB gene NGS test in India?
At DNA Labs India, the cost of the SGCB gene NGS genetic test is INR 20,000.
What sample is required for this test?
The test can be performed on a blood sample, extracted DNA, or a single drop of blood on an FTA card.
Does this test require fasting?
No, fasting is not required for this genetic test.
How long does it take to get results?
The turnaround time is 3 to 4 weeks from the date of sample receipt.
What will the test report include?
The report will include the clinical finding, raw data, FASTQ, and VCF files, along with a conclusive interpretation.
Why is genetic counselling recommended before the test?
Genetic counselling helps patients understand the inheritance pattern, implications of the results, and provides a pedigree of affected family members.
Is this test available for home sample collection?
Yes, DNA Labs India offers free home sample collection for online bookings across multiple cities in India.
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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For Hospitals & Clinics

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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