IGHMBP2 Gene Neuronopathy distal hereditary motor type 6 NGS Genetic Test
Short Name: IGHMBP2 dHMN6 NGS Test
Also known as: Distal Hereditary Motor Neuronopathy Type 6 Genetic Test, dHMN6 NGS Test, IGHMBP2 Mutation Analysis
IGHMBP2 Gene Neuronopathy distal hereditary motor type 6 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for confirmation on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in The test report is usually delivered within 3 to 4 weeks after the sample reaches the laboratory. In some rare cases, additional confirmatory Sanger sequencing may extend the turnaround time by a few days.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this NGS genetic test is to identify mutations in the IGHMBP2 gene that are responsible for Neuronopathy Distal Hereditary Motor Type 6. Early and accurate molecular diagnosis is crucial for confirming clinical suspicion, differentiating dHMN6 from other inherited neuropathies, estimating recurrence risks, and enabling proactive management of symptoms. Genetic test results can also guide family planning decisions through preimplantation or prenatal diagnosis in affected families. For patients with a clinical presentation consistent with dHMN6, this test provides confirmatory evidence and permits appropriate genetic counseling.
- Test Code
- 4416
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- The test report is usually delivered within 3 to 4 weeks after the sample reaches the laboratory. In some rare cases, additional confirmatory Sanger sequencing may extend the turnaround time by a few days.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing for confirmation
Sample Collection
No special preparation or fasting is required. Do not stop any medications without consulting your physician. If using an FTA card, ensure clean and dry hands before collecting the blood spot.
Method: Venipuncture or Finger-prick on FTA card
Laboratory Analysis
Blood will be collected by a trained phlebotomist in a sterile EDTA tube. Alternatively, for FTA cards, a single drop of blood is placed onto the card and allowed to air dry. The procedure is quick and minimally invasive.
Report Delivery
Your sample will be labeled and transported to the laboratory at room temperature. No specific aftercare is needed. You will be notified when the sample is received and when the report is ready for download.
Timeline: The test report is usually delivered within 3 to 4 weeks after the sample reaches the laboratory. In some rare cases, additional confirmatory Sanger sequencing may extend the turnaround time by a few days.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to identify mutations in the IGHMBP2 gene that are responsible for Neuronopathy Distal Hereditary Motor Type 6. Early and accurate molecular diagnosis is crucial for confirming clinical suspicion, differentiating dHMN6 from other inherited neuropathies, estimating recurrence risks, and enabling proactive management of symptoms. Genetic test results can also guide family planning decisions through preimplantation or prenatal diagnosis in affected families. For patients with a clinical presentation consistent with dHMN6, this test provides confirmatory evidence and permits appropriate genetic counseling.
How to Prepare
- Please do not eat or drink anything for 30 minutes prior to blood collection if speech assessment is also planned (not required for this test).
- For FTA card samples, use the provided lancet to prick the fingertip and press the blood onto the designated circles.
- Fill at least 3 circles on the FTA card for adequate DNA yield.
- Let the FTA card air dry for 30-60 minutes before placing it in the protective envelope.
- If the sample is whole blood in EDTA, refrigerate at 2-8°C if shipment is delayed by more than 24 hours; do not freeze.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic counseling is essential before ordering this test. Discussing the inherited nature of IGHMBP2-related neuronopathy helps families understand recurrence risks and reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood in EDTA tube
- Hemolysed blood sample
- Inadequately labeled or unlabeled sample
- FTA card with insufficient blood spots
- Sample received in formalin or transport media
Understanding Your Results
If you or your child experience progressive muscle weakness, difficulty walking, foot drop, or wasting of leg and hand muscles, consult a neurologist or geneticist. Early consultation can facilitate prompt diagnosis and multidisciplinary care. Patients with a family history of dHMN6 should seek genetic counseling before proceeding with presymptomatic testing.
Limitations
- ⚠This test only analyzes the IGHMBP2 gene; other genetic causes of distal motor neuropathies are not assessed.
- ⚠Regulatory regions, untranslated regions, and deep intronic variants may not be fully covered.
- ⚠Large structural variants (e.g., whole gene deletions) may not be reliably detected by NGS alone.
- ⚠Variant interpretation may be inconclusive if a VUS is identified; additional familial testing may be required.
- ⚠This test is not intended for prenatal diagnosis unless specifically validated.
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Very low risk of infection or bleeding
- ●Psychological stress from learning about genetic risk
- ●Potential for ambiguous results (VUS)
Interfering Factors
- ●Inadequate DNA quantity or quality from degraded sample
- ●Mislabeling or contamination of sample
- ●Certain large deletions or complex rearrangements may not be detected by standard NGS
- ●Mosaic mutations below detection threshold
- ●Interference from homologous pseudogenes might affect rare splicing regions
Compare With Similar Tests
| Test | IGHMBP2 Gene Neuronopathy distal hereditary motor type 6 NGS Genetic Test | Peripheral Neuropathy Panel (NGS, Multiple Genes) | Spinal Muscular Atrophy (SMN1/SMN2) Test | Sanger Sequencing of IGHMBP2 (Single Gene) | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | IGHMBP2 Gene Neuronopathy distal hereditary motor type 6 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the IGHMBP2 Gene dHMN6 NGS Genetic Test?
What exactly does this test detect?
What sample is required for the test?
Is fasting required before blood collection?
How long does it take to get the report?
Will the test work for someone with a known family history of dHMN6?
Can this test detect carriers of IGHMBP2 mutations?
Does this test require a doctor's prescription?
What is the difference between this single-gene NGS test and a whole exome test?
Are there any special precautions for collecting a blood sample for this test?
Will insurance cover this genetic test?
How do I book the test and avail home sample collection?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.