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BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic Test

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BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic Test

Short Name: BSCL2 Gene dHMN5A NGS

Also known as: BSCL2 Gene Neuropathy, Distal Hereditary Motor Neuropathy Type 5A, dHMN5A, Seipin-associated neuropathy

BSCL2 Gene Neuropathy, distal hereditary motor, type 5A 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To confirm the genetic basis of distal hereditary motor neuropathy type 5A by identifying pathogenic variants in the BSCL2 gene, enabling precise diagnosis, family risk assessment, and informed clinical management.

Test Code
4424
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
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

A genetic counselling session is required before testing. This includes a review of clinical history and drawing a family pedigree. No fasting is needed.

Method: Peripheral blood draw / FTA card spot

Step 2

Laboratory Analysis

A blood sample is drawn from your arm. If using an FTA card, a single drop of blood is applied to the card. The procedure takes about 10 minutes.

Step 3

Report Delivery

You can resume all normal activities immediately after sample collection. Your report will be shared within 3 to 4 weeks.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:A genetic counselling session is required before testing. This includes a review of clinical history and drawing a family pedigree. No fasting is needed.
2
During the Test:A blood sample is drawn from your arm. If using an FTA card, a single drop of blood is applied to the card. The procedure takes about 10 minutes.
3
After the Test:You can resume all normal activities immediately after sample collection. Your report will be shared within 3 to 4 weeks.

About This Test

Who Should Get This Test

To confirm the genetic basis of distal hereditary motor neuropathy type 5A by identifying pathogenic variants in the BSCL2 gene, enabling precise diagnosis, family risk assessment, and informed clinical management.

How to Prepare

  • No need to fast
  • Please complete a pre-test genetic counselling session
  • Carry your previous medical records and family history
  • For FTA card, collect one drop of blood from a fingertip as directed

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing has important implications for both the patient and their family. We strongly recommend discussing the results with a genetic counsellor to understand the medical, social, and reproductive aspects."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirement
ContainerEDTA vacutainer / FTA card / Sterile vial for DNA
Collection MethodPeripheral blood draw / FTA card spot

Sample Stability

Blood: stable at room temperature for up to 24 hours
Refrigerated at 2-8°C for up to 5 days
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Clotted blood
  • Hemolyzed sample
  • Incorrectly labelled sample
  • Sample received in non-sterile container

Understanding Your Results

The result of this NGS genetic test is interpreted by a clinical geneticist. Detected variants are classified based on ACMG guidelines and correlated with clinical findings.
📊

No pathogenic variant detected

No evidence of BSCL2 gene mutation. Clinical diagnosis should be re-evaluated.

📊

Pathogenic variant detected

Confirms the diagnosis of BSCL2 gene neuropathy. Family counselling recommended.

📊

Variant of unknown significance

Clinical significance not yet established. Additional family segregation studies may be needed.

⚠️ When to Consult a Doctor:

If you have symptoms of muscle weakness, wasting, or difficulty walking, or if you have a family history of hereditary neuropathy, consult a neurologist or genetic counselor.

Limitations

  • ⚠This test detects mutations in the coding and flanking regions of BSCL2. Large deletions/duplications, deep intronic variants, and structural rearrangements may not be detected.
  • ⚠A negative result does not exclude all hereditary motor neuropathies; other genes may be involved.

Risks & Considerations

  • ●Slight pain or bruising at the venipuncture site
  • ●Infection is extremely rare
  • ●Psychological or emotional distress from receiving genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Presence of acute illness or hematological malignancy may interfere with DNA extraction

Frequently Asked Questions

What is BSCL2 gene neuropathy?
BSCL2 gene neuropathy, also known as distal hereditary motor neuropathy type 5A (dHMN5A), is a rare inherited disorder caused by mutations in the BSCL2 gene. It results in progressive weakness and wasting of muscles in the hands and feet due to motor neuron degeneration.
What are the first symptoms of BSCL2 gene neuropathy?
Symptoms usually appear in adolescence or early adulthood, including weakness and wasting of hand and foot muscles, difficulty walking, poor balance, loss of muscle tone, and trouble with fine motor tasks.
How is BSCL2 gene neuropathy inherited?
BSCL2 gene neuropathy is typically inherited in an autosomal dominant pattern. A single copy of the mutated gene from an affected parent can cause the disorder. In some cases, it may occur as a new mutation.
What is the role of the BSCL2 gene?
The BSCL2 gene provides instructions for making seipin, a protein involved in lipid droplet formation, fat storage, and lipid metabolism. Mutations disrupt these processes and lead to motor neuron death.
Why is NGS used for BSCL2 gene testing?
Next-generation sequencing (NGS) allows simultaneous analysis of the entire BSCL2 gene coding region with high accuracy and efficiency, detecting point mutations and small insertions/deletions that may cause the disorder.
Who may need this NGS genetic test?
Individuals with clinical features of hereditary motor neuropathy, those with a family history of BSCL2-related conditions, and couples considering reproductive planning may need this test.
What is the cost of the BSCL2 gene NGS test at DNA Labs India?
The test cost is INR 20,000. It includes genetic counselling, sample collection, NGS sequencing, and a comprehensive clinical report. Free home sample collection is available across select cities.
What sample is needed for the BSCL2 NGS test?
The test can be done on whole blood (EDTA), extracted DNA, or a single drop of blood on an FTA card. The choice depends on patient convenience and laboratory protocol.
How long will it take to receive the test report?
Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.
Is genetic counselling needed before the test?
Yes, genetic counselling is recommended to understand the purpose, limitations, and implications of the test. DNA Labs India includes a counselling session to draw a pedigree chart of family members.
Can a negative test result completely rule out BSCL2 gene neuropathy?
A negative result significantly reduces the likelihood of BSCL2-related disease, but it cannot absolutely rule out all rare non-coding or structural variations. Clinical diagnosis remains important.
Can this genetic test be used for prenatal or preimplantation diagnosis?
Yes, with appropriate genetic counselling and clinical context, the test can provide information for reproductive planning. We recommend consulting the genetic counsellor for further 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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