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HSPB8 Gene CMT2L NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

HSPB8 Gene CMT2L NGS Genetic Test

Short Name: HSPB8 CMT2L NGS

Also known as: HSPB8 Gene Test, CMT2L Genetic Test, HSPB8 Neuropathy NGS Test

HSPB8 Gene CMT2L NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or Saliva or One drop Blood on FTA Card samples. Results in Reports are delivered in 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAdults and children🏠 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 NGS-based genetic test is to detect pathogenic variants in the HSPB8 gene, confirm or exclude a molecular diagnosis of CMT2L, and provide information for genetic counselling and family risk assessment.

Test Code
3972
ICD Code
G60.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or Saliva or One drop Blood on FTA Card
Result Time
Reports are delivered in 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counselling session is conducted to review family history and clinical symptoms. Kindly provide any available neurological examination reports or nerve conduction study reports with the sample.

Method: Blood draw / FTA card blood spot / saliva sample

Step 2

Laboratory Analysis

The sample is collected by a trained phlebotomist. For FTA card, one drop of blood is applied; for extracted DNA, the sample may be submitted directly; for saliva, the saliva collection tube is used. The collection process takes 5 to 10 minutes.

Step 3

Report Delivery

You can resume normal activities immediately after sample collection. Results are generally available in 3 to 4 weeks. Raw data files (FASTQ and VCF) will be provided along with the conclusive clinical report.

Timeline: Reports are delivered in 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No fasting is required. Clinical history and family pedigree should be reviewed in a pre-test genetic counselling session. Neurological reports and any prior genetic testing results can help interpretation.
2
During the Test:The test involves collection of a small blood/saliva sample or FTA card spot. If an extracted DNA sample is already available, it may be submitted directly.
3
After the Test:No restrictions are required after sample collection. The laboratory will process the sample and provide the report with raw data files to your clinician.

About This Test

Who Should Get This Test

The purpose of this NGS-based genetic test is to detect pathogenic variants in the HSPB8 gene, confirm or exclude a molecular diagnosis of CMT2L, and provide information for genetic counselling and family risk assessment.

How to Prepare

  • No special preparation is needed
  • Bring a government-issued ID and any previous medical/neurological records
  • For blood sample, an EDTA vacutainer is used
  • FTA card should be air-dried and placed in a sterile zip-lock pouch
  • Saliva sample should be collected in the provided sterile saliva collection tube
  • Complete the requisition form with detailed family history

Doctor's Notes

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

"Genetic confirmation of CMT2L requires proper clinical correlation. As a physician, I recommend that patients undergo pre-test counselling and share all family history details to help the laboratory interpret the HSPB8 result in the correct clinical context."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or Saliva or One drop Blood on FTA Card
ContainerEDTA vacutainer / FTA card / DNA vial / saliva collection kit
Collection MethodBlood draw / FTA card blood spot / saliva sample

Sample Stability

Blood sample should be transported to the laboratory promptly at ambient temperature
FTA card can be stored and transported at room temperature
Extracted DNA should be kept refrigerated or frozen until shipping
Saliva sample can be stored at room temperature for a few days before shipping
Sample Rejection Criteria:
  • Sample tube without correct patient identifiers
  • Clotted blood in EDTA tube
  • Insufficient sample quantity for DNA extraction
  • Severe hemolysis
  • FTA card with insufficient or contaminated blood spot

Understanding Your Results

The report is interpreted based on the presence or absence of pathogenic or likely pathogenic variants in the HSPB8 gene. All results must be correlated with clinical symptoms and family history.
📊

Positive

A pathogenic/likely pathogenic variant was detected in the HSPB8 gene, confirming the molecular diagnosis of CMT2L.

📊

Negative

No pathogenic variant was detected in the HSPB8 gene. CMT2L cannot be completely excluded if clinical suspicion remains high; other genetic causes may be considered.

📊

Variant of Uncertain Significance (VOUS)

A DNA change was identified, but its clinical significance is not established. Additional family member testing and further evaluation may be helpful.

⚠️ When to Consult a Doctor:

Consult a neurologist or a clinical geneticist if you or your child have progressive foot weakness, numbness, gait disturbance, foot deformities, or a known family history of CMT. Genetic counselling should accompany HSPB8 genetic testing.

Limitations

  • ⚠This test is specific to the HSPB8 gene and does not evaluate other genes associated with CMT
  • ⚠Variants in non-coding or regulatory regions may not be detected depending on the NGS assay
  • ⚠Large genomic rearrangements may not be reported by all NGS analyses
  • ⚠A variant of uncertain significance may be identified and require additional family studies
  • ⚠Genetic testing does not predict disease severity or progression

Risks & Considerations

  • ●Minimal pain or bruising at the blood draw site
  • ●Rare fainting during blood collection
  • ●Psychological impact from a positive genetic result

Interfering Factors

  • ●Allogeneic blood or stem cell transplant can affect DNA analysis
  • ●Poor DNA quality or quantity due to improper storage
  • ●Sample contamination during collection or transport
  • ●Incorrect labelling or patient identification

Compare With Similar Tests

TestHSPB8 Gene CMT2L NGS Genetic Test
ComparisonHSPB8 Gene CMT2L NGS Genetic Test

Frequently Asked Questions

What is CMT2L?
CMT2L is a subtype of Charcot-Marie-Tooth disease caused by mutations in the HSPB8 gene. It primarily affects peripheral nerves and leads to progressive muscle weakness in the legs and feet, sensory changes, and foot deformities.
What does the HSPB8 NGS genetic test do?
It uses next-generation sequencing to identify pathogenic variants in the HSPB8 gene to confirm or exclude a molecular diagnosis of CMT2L.
Who should consider this test?
People with clinical signs of peripheral neuropathy, foot deformity, muscle weakness, or a known family history of CMT2L/HSPB8-related neuropathy. A neurologist or geneticist should assess the indication.
Is fasting required before the test?
No, fasting is not required. The test can be done at any time of day.
What sample is needed?
A blood sample, an extracted DNA sample, saliva, or one drop of blood on an FTA card can be used. We also offer free home sample collection for online bookings.
How long does it take to get the report?
Reports are usually delivered in 3 to 4 weeks after sample receipt.
What is the cost of the test at DNA Labs India?
The test costs INR 20,000, which includes genetic testing, analysis, interpretation, raw data files and a conclusive clinical report.
Does DNA Labs India share raw data?
Yes, DNA Labs India provides Raw Data, FASTQ, and VCF files along with the clinical test report for transparency.
Can children be tested?
Yes, the test can be performed on both adults and children. A clinical history and genetic counselling session should be completed beforehand.
What do my test results mean?
A negative result means no pathogenic HSPB8 variant was detected. A positive result confirms the diagnosis of CMT2L. A variant of uncertain significance may require additional family analysis.
Should I have genetic counselling before testing?
Yes, pre-test genetic counselling is important to review family history, explain limitations of the test, and plan the correct sample collection.
Is the HSPB8 CMT2L NGS test covered by insurance?
Insurance coverage varies by policy. PMJAY, CGHS, ECHS and ESIC generally do not have standard coverage for this test at present. You can check with your insurer.
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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✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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