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DYNC1H1 Gene Spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant NGS Genetic Test

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DYNC1H1 Gene Spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant NGS Genetic Test

Short Name: DYNC1H1 SMALED1 NGS Test

Also known as: SMALED1, Lower extremity-predominant SMA type 1, Autosomal dominant SMALED1, DYNC1H1-related SMA

DYNC1H1 Gene Spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric and Adult🏠 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

To detect mutations in the DYNC1H1 gene for diagnosis of spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant (SMALED1), aiding in clinical management and genetic counseling.

Test Code
4561
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree chart.
2
During the Test:Blood sample collection and processing for NGS analysis.
3
After the Test:Report generation and delivery with genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To detect mutations in the DYNC1H1 gene for diagnosis of spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant (SMALED1), aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Genetic testing for SMALED1 is crucial for accurate diagnosis and family planning. Early intervention can help manage symptoms effectively."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods at appropriate storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the DYNC1H1 gene. Positive results confirm SMALED1 diagnosis, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of SMALED1. Genetic counseling recommended.

📊

No pathogenic variant detected

SMALED1 unlikely, but clinical correlation needed. Consider other genetic tests.

📊

Variant of uncertain significance (VUS)

Further evaluation and family studies advised.

⚠️ When to Consult a Doctor:

If experiencing symptoms like progressive leg weakness, difficulty walking, or respiratory issues, consult a neurologist or genetic specialist for evaluation.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is the DYNC1H1 Gene SMALED1 NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the DYNC1H1 gene, which causes spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant (SMALED1).
Who should take this test?
Individuals with symptoms of SMALED1, such as leg weakness, foot drop, or balance issues, or those with a family history of the condition.
What are the symptoms of SMALED1?
Symptoms include difficulty walking, leg and hip weakness, foot drop, balance problems, muscle wasting, fine motor difficulties, and respiratory issues.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify mutations in the DYNC1H1 gene.
What is the cost of the test?
The test costs INR 20,000 in India, with home sample collection available at no extra charge.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate the presence or absence of DYNC1H1 gene mutations. Positive results confirm SMALED1, while negative results may require further evaluation.
Is there a cure for SMALED1?
Currently, there is no cure for SMALED1. Treatment focuses on managing symptoms and improving quality of life.
How is SMALED1 treated?
Treatment includes physical therapy, occupational therapy, assistive devices, respiratory support, and sometimes surgery for deformities.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before and after testing to discuss implications and results.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, such as bruising. Psychological impact of results is also considered.
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.

LIMS Integration

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.

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