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HSPB1 Gene Neuronopathy distal hereditary motor type 2B NGS Genetic Test

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HSPB1 Gene Neuronopathy distal hereditary motor type 2B NGS Genetic Test

Short Name: HSPB1 dHMN2B NGS

Also known as: dHMN2B, HSPB1-related distal hereditary motor neuropathy, Distal hereditary motor neuropathy type 2B, HSPB1 gene neuronopathy

HSPB1 Gene Neuronopathy distal hereditary motor type 2B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks of sample receipt. The exact time may vary depending on sequencing logistics and the need for additional confirmation.. Free home collection in 300+ cities across India.

NGS Genetic TestAdults (18+ years)🏠 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 or exclude the diagnosis of HSPB1-related distal hereditary motor neuropathy type 2B by identifying pathogenic variants in the HSPB1 gene using next-generation sequencing.

Test Code
4420
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks of sample receipt. The exact time may vary depending on sequencing logistics and the need for additional confirmation.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counseling session must be completed before testing to document clinical history and construct a family pedigree. Please share all relevant neurological examination findings and prior genetic reports with the testing laboratory.

Method: Blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A blood sample will be collected from a vein, or a small spot of blood may be placed on an FTA card. The sample is labeled and sent to the molecular genetics laboratory.

Step 3

Report Delivery

You may return to routine activities. The laboratory will process the sample for DNA extraction, HSPB1 gene enrichment, NGS sequencing, and clinical interpretation. Reports will be issued in 3 to 4 weeks.

Timeline: Reports are issued within 3 to 4 weeks of sample receipt. The exact time may vary depending on sequencing logistics and the need for additional confirmation.

Patient Instructions

1
Before the Test:No fasting is required. A genetic counseling session should be done before the test to document clinical history and construct a family pedigree.
2
During the Test:The sample will be collected as blood or FTA card spot. You may feel slight discomfort during the blood draw.
3
After the Test:No special precautions are needed. The sample will be transported to the laboratory for NGS analysis.

About This Test

Who Should Get This Test

To confirm or exclude the diagnosis of HSPB1-related distal hereditary motor neuropathy type 2B by identifying pathogenic variants in the HSPB1 gene using next-generation sequencing.

How to Prepare

  • Submit blood in an EDTA tube, extracted DNA sample, or one drop of blood on an FTA card
  • Ensure the sample is labeled with the patient's name and unique identification number
  • Complete the test requisition form with clinical history and physician details
  • Send the sample at ambient room temperature unless otherwise instructed by the laboratory

Doctor's Notes

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

"Neurological assessment, electrophysiological studies, and genetic counseling should be performed before and after this test to ensure the result is correctly interpreted for the patient's symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
ContainerEDTA tube / FTA card / DNA vial
Collection MethodBlood draw or FTA card blood spot

Sample Stability

Whole blood in EDTA: transport within 72 hours at room temperature; do not freeze
FTA card blood spots: stable at ambient temperature for several days
Extracted DNA: stable for long-term storage when kept at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labeled sample
  • Sample received without proper requisition or consent form
  • DNA sample showing severe degradation or insufficient quantity

Understanding Your Results

The HSPB1 NGS genetic test result must be interpreted in the context of clinical presentation, electromyography or nerve conduction findings, and family history. A genetic counselor, clinical geneticist, or neurologist should discuss the result with the patient.
📊

Pathogenic or likely pathogenic variant detected

Confirms the molecular diagnosis of HSPB1-related dHMN2B in the appropriate clinical context.

📊

No pathogenic variant detected

Reduces the likelihood of HSPB1-related dHMN2B, but other genetic or acquired causes remain possible.

📊

Variant of uncertain significance identified

Clinical significance is unknown; testing of affected and unaffected family members may aid reclassification.

⚠️ When to Consult a Doctor:

Consult a neurologist if you have unexplained distal weakness, foot drop, muscle atrophy, or difficulty with fine motor tasks. Consult a clinical geneticist or genetic counselor if you are considering genetic testing or have a family history of HSPB1-related neuropathy.

Limitations

  • ⚠This NGS test is designed to detect sequence variants in HSPB1; it may not detect large deletions, insertions, or deep intronic variants
  • ⚠A negative result does not exclude all hereditary motor neuropathies because other genes may be involved
  • ⚠Variants of uncertain significance may require additional segregation analysis in family members
  • ⚠Interpretation requires correlation with clinical findings, nerve conduction studies, and family history

Risks & Considerations

  • ●Minor bruising, pain, or bleeding at the venipuncture site
  • ●Rarely, infection or excessive bleeding
  • ●Psychological impact of predictive test results
  • ●Possibility of uncertain genetic findings

Interfering Factors

  • ●Bone marrow transplantation or recent blood transfusion may affect DNA analysis
  • ●Severely degraded or insufficient DNA may lead to failed sequencing
  • ●Hematological malignancies with clonal hematopoiesis may interfere with variant calling
  • ●Variants in other genes not covered by this targeted test will not be detected

Frequently Asked Questions

What is the HSPB1 gene neuronopathy distal hereditary motor type 2B NGS genetic test?
It is a targeted next-generation sequencing test that analyzes the HSPB1 gene to identify disease-causing variants associated with distal hereditary motor neuropathy type 2B. At DNA Labs India, the test costs INR 20,000 and reports are provided in 3 to 4 weeks.
What is the role of the HSPB1 gene?
HSPB1 provides instructions for making heat shock protein beta-1, which protects cells, including motor neurons, from stress and damage. Pathogenic variants impair this protective function and may cause motor neuron degeneration.
Who should take this test?
It is intended for individuals with progressive distal muscle weakness, foot drop, hand weakness, or a family history of dHMN2B, after evaluation by a neurologist and genetic counselor.
Is fasting required before the test?
No, fasting is not required for the HSPB1 gene NGS genetic test.
What sample is needed for the HSPB1 gene NGS genetic test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for testing.
How is the test performed?
Genomic DNA is isolated from the sample and the HSPB1 gene is enriched and sequenced using next-generation sequencing technology. Detected variants are interpreted using standard classification guidelines.
What does a positive result mean?
A positive result identifies a pathogenic or likely pathogenic variant in HSPB1, which supports the clinical diagnosis of HSPB1-related distal hereditary motor neuropathy type 2B in the appropriate clinical context.
What does a negative result mean?
A negative result means no disease-causing variant was identified in the HSPB1 gene. It does not entirely exclude the diagnosis because the condition can be caused by changes in other genes or variant types not detected by this test.
What is a variant of uncertain significance?
A variant of uncertain significance is a genetic change whose clinical impact is not yet clear. Additional family studies, segregation analysis, and clinical correlation may be needed to clarify its significance.
How long does it take to get the reports?
Reports are generally delivered in 3 to 4 weeks after the sample reaches the laboratory.
Can this test be booked online?
Yes, DNA Labs India offers online booking with free home sample collection for this test in many cities across India at a discounted price of INR 20,000.
Should I speak to a doctor before booking this test?
Yes. A clinical history, genetic counseling session, and pedigree analysis are important before and after testing. You should consult a neurologist or clinical geneticist to understand whether this test is appropriate for you.
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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