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DCTN1 Gene Neuronopathy distal hereditary motor type 7B NGS Genetic Test

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DCTN1 Gene Neuronopathy distal hereditary motor type 7B NGS Genetic Test

Short Name: DCTN1 dHMN7B NGS Genetic Test

Also known as: dHMN7B, DCTN1-related distal hereditary motor neuropathy, DCTN1 gene neuronopathy, Distal hereditary motor neuropathy type 7B genetic test

DCTN1 Gene Neuronopathy distal hereditary motor type 7B 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 delivered within 3 to 4 weeks from sample receipt. A secure link is shared via email, WhatsApp, or the patient portal.. Free home collection in 300+ cities across India.

Genetic🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify disease-causing variants in the DCTN1 gene and confirm or exclude the genetic basis of distal hereditary motor neuropathy type 7B in the context of the clinical presentation.

Test Code
4421
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks from sample receipt. A secure link is shared via email, WhatsApp, or the patient portal.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Complete the consent and requisition form, share relevant clinical history, and attend a genetic counselling session.

Method: Venipuncture / Finger-Prick / Blood Spot on FTA Card

Step 2

Laboratory Analysis

A blood sample is collected from a vein. If using FTA card, a single drop of blood is applied to the card.

Step 3

Report Delivery

You may resume normal activities immediately. The laboratory will process the sample and share the report within 3-4 weeks.

Timeline: Reports are delivered within 3 to 4 weeks from sample receipt. A secure link is shared via email, WhatsApp, or the patient portal.

Patient Instructions

1
Before the Test:No special preparation is required. Genetic counselling is recommended before ordering the test.
2
During the Test:A small blood sample is collected. For FTA card samples, one drop of blood is sufficient.
3
After the Test:The sample is sent to the laboratory. The report is delivered within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the DCTN1 gene and confirm or exclude the genetic basis of distal hereditary motor neuropathy type 7B in the context of the clinical presentation.

How to Prepare

  • No fasting is required.
  • For whole blood, a venous sample is collected in an EDTA tube.
  • For FTA card, one drop of blood from a finger prick is applied to the card.
  • Label the sample with patient name and unique ID before transport.

Doctor's Notes

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

"This genetic test should be ordered only after appropriate clinical and electrophysiological evaluation. A positive result should be followed by genetic counselling and discussion of the implications for the patient and family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required by protocol; one drop for FTA card
ContainerEDTA tube / DNA storage vial / FTA card
Collection MethodVenipuncture / Finger-Prick / Blood Spot on FTA Card

Sample Stability

Whole blood/EDTA: 3-5 days at 2-8°C
Extracted DNA: stable for months at -20°C
FTA card: stable at room temperature for prolonged storage
Sample Rejection Criteria:
  • Clotted or severely haemolysed sample
  • Unlabelled or mislabelled sample
  • Sample received without consent or requisition form
  • Insufficient quantity of blood or DNA

Understanding Your Results

The genetic report should be interpreted in conjunction with the clinical examination, nerve conduction findings, and family history.
📊

Confirms the genetic diagnosis of DCTN1-associated dHMN7B. Genetic counselling and family testing are recommended.

Result type: Pathogenic variant detected

📊

Consistent with clinical suspicion. Additional family segregation testing may be advised.

Result type: Likely pathogenic variant detected

📊

Insufficient evidence to determine pathogenicity. Clinical correlation and familial testing may be helpful.

Result type: Variant of uncertain significance (VUS)

📊

Does not rule out hereditary motor neuropathy, as other genes or unanalysed variants may be responsible.

Result type: No pathogenic variant detected

⚠️ When to Consult a Doctor:

Consult a neurologist and a clinical geneticist if the result shows a pathogenic/likely pathogenic variant, or if the patient develops progressive weakness, breathing difficulty, or foot drop.

Limitations

  • This test evaluates only the DCTN1 gene; variants in other genes associated with hereditary motor neuropathies will not be detected.
  • NGS may not detect large deletions/duplications, structural rearrangements or variants in unsupported regulatory regions.
  • Variants of uncertain significance may require additional family studies.
  • A negative result does not exclude all hereditary causes.

Risks & Considerations

  • Minor pain or bruising at the blood collection site
  • Light-headedness during or after blood draw
  • Rare risk of local infection
  • Psychological impact of receiving a genetic test result

Interfering Factors

  • Poor DNA quality or quantity
  • Contamination with non-patient DNA
  • Recent allogeneic haematopoietic stem cell transplant
  • Sample mix-up or labelling error

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Frequently Asked Questions

What is DCTN1 Gene Neuronopathy distal hereditary motor type 7B?
It is a rare inherited neurological disorder caused by mutations in the DCTN1 gene, affecting motor neurons in the spinal cord and leading to distal muscle weakness and wasting, especially in the hands and feet.
What are the symptoms of this condition?
Symptoms include weakness and wasting of hand and foot muscles, difficulty walking, difficulty using the hands, foot drop, and in some cases breathing difficulties.
How is DCTN1 Gene Neuronopathy distal hereditary motor type 7B diagnosed?
Diagnosis is made by clinical examination, nerve conduction studies, and genetic testing. Genetic testing confirms the diagnosis and helps guide management.
What is an NGS genetic test?
NGS, or Next Generation Sequencing, is a high-throughput DNA sequencing method that efficiently analyses multiple genes for mutations. It is used here to detect pathogenic variants in the DCTN1 gene.
What is the cost of the test at DNA Labs India?
The test costs INR 20,000. It includes free home sample collection and a specially discounted price for online bookings.
What sample is required?
The sample can be whole blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally.
How long do the reports take?
Reports are generally available within 3 to 4 weeks from the date the sample is received by the laboratory.
Is home sample collection available?
Yes. DNA Labs India offers free home sample collection for online bookings across multiple cities in India.
Do I need genetic counselling before or after the test?
Yes. Genetic counselling is strongly recommended to draw a family pedigree, explain the inheritance pattern, and help you understand the result and its implications.
What does a positive result mean?
A positive result indicates detection of a pathogenic or likely pathogenic variant in the DCTN1 gene, confirming the genetic basis of the condition. Your doctor will use this to guide treatment and family planning.
Is this test available across India?
Yes, the test is available across India with home sample collection in major cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many more.
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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