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HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic Test

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HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic Test

Short Name: HSPB8 dHMN2A NGS

Also known as: HSPB8 Gene dHMN2A Test, Distal Hereditary Motor Neuropathy Type 2A Genetic Test, HSPB8 Mutation Analysis

HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or FTA Card samples. Results in Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAdult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To identify pathogenic variants in the HSPB8 gene that cause distal hereditary motor neuropathy type 2A, confirm the clinical diagnosis, guide management, and enable accurate genetic counseling for affected families.

Test Code
4414
Price
₹20,000
Sample Type
Blood or Extracted DNA or FTA Card
Result Time
Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please avoid blood transfusion in the preceding 2 weeks if possible. Inform your doctor about all medications and supplements you are taking. Bring any prior neurological evaluation reports or electrophysiology results to the genetic counseling session.

Method: Peripheral venipuncture / Finger-prick on FTA card

Step 2

Laboratory Analysis

A phlebotomist will collect 2-3 mL of venous blood into an EDTA (purple-top) tube. For FTA card collection, a small drop of blood from a finger or heel is applied to the card.

Step 3

Report Delivery

There are no activity restrictions. The blood sample should be maintained at room temperature and shipped to the laboratory within 24 hours. For FTA cards, allow the card to air-dry completely before sealing in a provided bag.

Timeline: Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:Before the test, the patient will undergo a genetic counseling session to draw a three-generation pedigree, discuss the purposes, risks, benefits, and alternatives of NGS testing, and provide informed consent. A detailed neurological examination and review of prior electrophysiological studies should be performed.
2
During the Test:The genetic test procedure involves genomic DNA extraction from the collected sample. Next-generation sequencing is performed to read the coding exons and splice sites of the HSPB8 gene. If a variant is identified, it is confirmed by Sanger sequencing. The entire process takes approximately 3 to 4 weeks.
3
After the Test:After the test, the patient will receive a comprehensive test report. The clinician or genetic counselor will interpret the results, discuss implications for the patient and family members, and explore reproductive options if appropriate. Raw data files (FASTQ and VCF) are provided for transparency and are available for future bioinformatic analysis.

About This Test

Who Should Get This Test

To identify pathogenic variants in the HSPB8 gene that cause distal hereditary motor neuropathy type 2A, confirm the clinical diagnosis, guide management, and enable accurate genetic counseling for affected families.

How to Prepare

  • No special preparation needed
  • Use EDTA vacutainer for blood collection
  • FTA card: apply one drop of blood for each circle
  • Label the sample with the patient's name and date of birth
  • Transport samples to the lab at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"A precise molecular diagnosis of HSPB8-related dHMN is essential to distinguish this condition from other hereditary neuropathies. It empowers families with accurate recurrence risk information and supports timely rehabilitation and monitoring."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or FTA Card
Sample Volume2-3 mL whole blood or 3 spots on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral venipuncture / Finger-prick on FTA card

Sample Stability

Whole blood in EDTA at room temperature: 24 hours
Whole blood in EDTA at 2-8°C: 72 hours
Purified DNA at 2-8°C: 2 weeks
FTA card at room temperature: >6 months
Sample Rejection Criteria:
  • Insufficient sample volume (<1 mL whole blood)
  • Clotted sample
  • Severely hemolyzed sample
  • Missing or mismatched patient identifiers

Understanding Your Results

The interpretation of HSPB8 gene variants follows the American College of Medical Genetics and Genomics (ACMG) standards. A clinically actionable finding is considered when a pathogenic or likely pathogenic variant is identified.
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⚠️ When to Consult a Doctor:

Contact your neurologist or a clinical geneticist if you experience progressive hand or foot weakness, muscle cramps, fasciculations, or a family history suggestive of hereditary motor neuropathy. Early evaluation and genetic testing can inform prognosis, management, and family planning.

Limitations

  • ⚠This test detects point mutations and small indels; large deletions/duplications may not be reliably detected by NGS.
  • ⚠Deep intronic variants and promoter variants may be missed.
  • ⚠Variants of uncertain significance (VUS) may require additional family segregation studies.
  • ⚠This test does not analyze other genes associated with dHMN unless a comprehensive panel is selected.

Risks & Considerations

  • ●Pain, bruising, or bleeding at the venipuncture site
  • ●Infection (extremely rare with sterile technique)
  • ●Psychological impact of receiving a positive test result
  • ●Unexpected genetic findings (secondary findings)

Interfering Factors

  • ●Clotted or hemolyzed blood samples
  • ●Contaminated DNA or insufficient DNA quantity
  • ●Presence of homologous pseudogenes (rare)
  • ●Incorrect patient identification on sample tube

Frequently Asked Questions

What is HSPB8 gene neuronopathy type 2A?
HSPB8 gene neuronopathy type 2A, also known as distal hereditary motor neuropathy type 2A (dHMN2A), is a rare inherited neurological disorder caused by mutations in the HSPB8 gene. It leads to progressive weakness and wasting of muscles, usually starting in the hands and feet.
What are the early signs of distal hereditary motor neuropathy type 2A?
Early signs include weakness and atrophy of the small muscles of the hands and feet, muscle cramps, fasciculations (visible muscle twitching), and difficulty with fine motor activities such as writing or buttoning clothes.
How is this NGS genetic test different from a single-gene test?
This test uses next-generation sequencing (NGS) technology, which allows high-throughput parallel sequencing of the entire HSPB8 gene in a single run. It is more comprehensive and accurate than older Sanger sequencing for detecting point mutations and small indels, and it can be performed at a lower cost per gene.
What sample is needed for the test?
The test can be performed on 2-3 mL of peripheral blood collected in an EDTA tube, on extracted DNA, or on a single drop of blood spotted on an FTA card. All three sample types are accepted.
Is fasting required before the blood sample is drawn?
No, fasting is not required for this genetic test. You may eat and drink normally before sample collection.
How long does it take to get the report?
The turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory. This includes DNA extraction, NGS sequencing, data analysis, and clinical interpretation.
Why does DNA Labs India provide raw FASTQ and VCF files?
DNA Labs India is committed to transparency. Providing the raw FASTQ and VCF files allows patients, clinicians, or researchers to independently re-analyze the sequencing data if second opinions are needed or future bioinformatic re-evaluation is required. This is a standard practice in accredited genomics laboratories.
Can this test detect all types of HSPB8 mutations?
The test detects point mutations and small insertions/deletions in the coding exons and splice sites of the HSPB8 gene. It does not reliably detect large genomic deletions/duplications, deep intronic variants, or structural rearrangements. If a large rearrangement is suspected, complementary methods like MLPA may be recommended.
Are there any risks involved in the test?
The test involves a routine blood draw or finger-prick for FTA card, which carries minimal risks such as slight pain, bruising, or rarely infection. There is no added medical risk from the genetic test itself.
Is genetic counseling available with the test?
Yes, pre-test and post-test genetic counseling is an integral part of the testing process. This is performed by qualified clinical geneticists to discuss the implications, limitations, and outcomes of the test, and to draw a family pedigree to assess hereditary risks.
How much does the test cost in India?
The cost of the HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic Test is INR 20,000 at DNA Labs India. This is an all-inclusive price covering sample collection, NGS testing, clinical report, and raw data files. Home sample collection is free across most cities in India.
Is the test covered by insurance?
Insurance coverage for genetic tests varies in India. While many public and private insurance schemes do not yet cover this test, coverage may be available under certain corporate policies or on a case-by-case basis. DNA Labs India provides a detailed invoice and documentation that may be submitted for reimbursement.
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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