Skip to main content
DNA Labs India

ATP7A Gene Spinal muscular atrophy, distal, X-linked NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ATP7A Gene Spinal muscular atrophy, distal, X-linked NGS Genetic Test

Also known as: Distal X-linked Spinal Muscular Atrophy, ATP7A-related SMA

ATP7A Gene Spinal muscular atrophy, distal, X-linked 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose mutations in the ATP7A gene causing distal X-linked spinal muscular atrophy, confirm clinical symptoms, identify carriers, and aid in genetic counseling and family planning.

Test Code
4559
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with ATP7A Gene Spinal muscular atrophy, distal, X-linked disease.

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling as per pre-test information requirements.

About This Test

Who Should Get This Test

To diagnose mutations in the ATP7A gene causing distal X-linked spinal muscular atrophy, confirm clinical symptoms, identify carriers, and aid in genetic counseling and family planning.

How to Prepare

  • Blood sample collection by venipuncture
  • Use FTA card for one drop blood if applicable
  • Ensure proper labeling and handling of samples

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ATP7A gene, which are associated with distal X-linked spinal muscular atrophy.
📊

Mutation detected

Confirms diagnosis of distal X-linked SMA; may indicate carrier status or affected individual.

Action: Consult a geneticist or neurologist for management and family counseling.

📊

No mutation detected

No pathogenic variants found in the ATP7A gene; symptoms may be due to other causes.

Action: Consider further diagnostic evaluation if symptoms persist.

⚠️ When to Consult a Doctor:

If you experience symptoms such as muscle weakness in hands or feet, difficulty walking, or have a family history of SMA, consult a healthcare provider for genetic testing and evaluation.

Frequently Asked Questions

What is the ATP7A Gene Spinal Muscular Atrophy NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the ATP7A gene, which can cause distal X-linked spinal muscular atrophy.
What are the symptoms of ATP7A gene-related SMA?
Symptoms include muscle weakness and wasting in hands and feet, difficulty walking, impaired fine motor skills, swallowing or breathing issues, and scoliosis.
How is the test performed?
The test analyzes DNA from a blood sample, extracted DNA, or one drop of blood on an FTA card using NGS technology.
What is the cost of this test?
The test costs INR 20,000, with free home sample collection available across India.
Who should consider this test?
Individuals with symptoms of distal X-linked SMA, a family history of the condition, or those seeking genetic counseling for family planning.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Reports are typically delivered within 3 to 4 weeks after sample collection.
Can this test identify carriers of the condition?
Yes, genetic testing can identify carriers of ATP7A gene mutations, which is important for family planning.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What should I do before the test?
Provide clinical history and undergo a genetic counseling session to draw a family pedigree chart.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the ATP7A gene, confirming diagnosis or carrier status for distal X-linked SMA.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.