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BICD2 Gene Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 NGS Genetic Test

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BICD2 Gene Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 NGS Genetic Test

Short Name: BICD2 Gene SMALED2 NGS Test

Also known as: SMALED2, BICD2-related SMA, Autosomal Dominant Lower Extremity SMA

BICD2 Gene Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 diagnose Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant, Type 2 (SMALED2) by detecting mutations in the BICD2 gene using Next Generation Sequencing (NGS). It helps confirm clinical suspicion, identify carriers, and guide genetic counseling and management.

Test Code
4558
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. Ensure a valid prescription and clinical history are available.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bruising. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation needed. Genetic counseling is recommended prior to testing.
2
During the Test:Blood sample collection takes about 10-15 minutes.
3
After the Test:Resume normal activities. Monitor the puncture site for any signs of infection.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant, Type 2 (SMALED2) by detecting mutations in the BICD2 gene using Next Generation Sequencing (NGS). It helps confirm clinical suspicion, identify carriers, and guide genetic counseling and management.

How to Prepare

  • Fasting is not required
  • Bring a government-issued ID and doctor's prescription
  • Inform the collector of any bleeding disorders or medications

Doctor's Notes

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

"Genetic testing for SMALED2 is essential for accurate diagnosis, understanding disease progression, and informed family planning. Early detection can guide management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at 2-8°C
Extracted DNA stable for longer periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrectly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the BICD2 gene. A positive result confirms SMALED2 diagnosis, while a negative result may require further clinical evaluation.
📊

Positive

Pathogenic variant detected in BICD2 gene, confirming SMALED2 diagnosis.

📊

Negative

No pathogenic variants detected; clinical correlation recommended.

📊

Variant of Uncertain Significance (VUS)

Genetic variant found but clinical significance unknown; follow-up testing may be needed.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms persist, for family planning advice, or to discuss test results and management options.

Limitations

  • ⚠May not detect all genetic variants, including deep intronic mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may be inconclusive in some cases

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or dizziness
  • ●Rare risk of infection at puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage

Compare With Similar Tests

TestBICD2 Gene Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 NGS Genetic TestSMN1 Gene Deletion TestSMN2 Copy Number TestComprehensive Neurological Genetic PanelCarrier Screening for SMA
ComparisonBICD2 Gene Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 NGS Genetic Test

Frequently Asked Questions

What is SMALED2?
SMALED2 is a rare form of spinal muscular atrophy caused by mutations in the BICD2 gene, primarily affecting the lower extremities.
Who should get this test?
Individuals with symptoms like leg muscle weakness, difficulty walking, or a family history of SMALED2 should consider this test.
How is the test performed?
The test uses Next Generation Sequencing (NGS) to analyze the BICD2 gene from a blood or DNA sample.
What is the cost of the test?
The cost is INR 20000 at DNA Labs India, including home sample collection.
Is fasting required?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Can this test detect carriers?
Yes, it can identify carriers of BICD2 gene mutations.
What if the test is negative?
A negative result means no pathogenic variants were detected, but clinical evaluation may still be needed.
Is home collection available?
Yes, free home sample collection is available for online bookings across India.
What are the risks of the test?
Risks are minimal, similar to a standard blood draw, such as bruising.
How accurate is the test?
NGS technology provides high accuracy, but genetic counseling is recommended for interpretation.
Can I use insurance for this test?
Coverage depends on your insurance plan; check with your provider for details.
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

Reference Laboratory Services

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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