Skip to main content
DNA Labs India

ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 NGS Genetic Test

Short Name: ATP1A2 AHC1 NGS Genetic Test

Also known as: ATP1A2 gene test for AHC Type 1, Alternating hemiplegia of childhood type 1 genetic test, ATP1A2 mutation analysis NGS

ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 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 from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups, usually 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 test is to detect pathogenic variants in the ATP1A2 gene that are associated with Alternating Hemiplegia of Childhood Type 1. A molecular diagnosis can clarify the cause of unexplained paroxysmal neurological episodes, guide ongoing medical management, help with seizure control and developmental support, and enable accurate genetic counselling for the family.

Test Code
3863
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is needed. A genetic counselling session is recommended before the test to explain the procedure, document the patient's clinical history, and draw a family pedigree.

Method: Venepuncture, dried blood spot on FTA card, or extracted DNA submission

Step 2

Laboratory Analysis

A blood sample is collected in an EDTA tube, or a few drops of blood are placed on an FTA card. Extracted DNA samples may also be accepted if already available.

Step 3

Report Delivery

The sample is labelled, stored, and transported to the DNA Labs India laboratory. The genetic report is generally ready within 3 to 4 weeks.

Timeline: 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:Discuss the child's symptoms with the referring physician and genetic counsellor. Sign informed consent after understanding the benefits and limitations of the test.
2
During the Test:The test itself requires only a simple blood sample or FTA card sample; there is no pain beyond the routine blood draw.
3
After the Test:After receiving the report, book a follow-up consultation with a geneticist or neurologist to understand the result and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the ATP1A2 gene that are associated with Alternating Hemiplegia of Childhood Type 1. A molecular diagnosis can clarify the cause of unexplained paroxysmal neurological episodes, guide ongoing medical management, help with seizure control and developmental support, and enable accurate genetic counselling for the family.

How to Prepare

  • No special preparation such as fasting is required
  • Please bring the patient's previous clinical records and reports, if available
  • Inform the collection team if the child has a bleeding disorder or is on anticoagulant treatment
  • Ensure the requisition form is correctly labelled with the patient's details

Doctor's Notes

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

"In my practice, I explain to families that the ATP1A2 test is most useful when the clinical picture includes repeated unilateral weakness or early-onset episodic neurological symptoms. For women with a family history of ATP1A2-related disorders, pre-conception and prenatal genetic counselling is strongly advised so that reproductive options are understood before a pregnancy is planned."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA tube / FTA card / DNA vial
Collection MethodVenepuncture, dried blood spot on FTA card, or extracted DNA submission

Sample Stability

EDTA blood sample: 24-48 hours at room temperature; do not freeze
FTA card: stable for several days at room temperature
Extracted DNA: stable for long-term storage if kept at -20°C
Sample Rejection Criteria:
  • Clotted, haemolysed or visibly contaminated blood sample
  • Mismatched or missing patient identifiers on the sample and requisition form
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The report will be evaluated by a clinical geneticist. Variants are classified as pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, or benign based on current ACMG guidelines. A positive result confirms the molecular diagnosis of ATP1A2-related AHC Type 1.
Positive - Pathogenic variant detected: Confirms molecular diagnosis of ATP1A2-related AHC Type 1; genetic counselling recommended
Positive - Likely pathogenic variant detected: Supports clinical diagnosis; family segregation testing and clinical correlation are recommended
Variant of uncertain significance: Cannot confirm or exclude the diagnosis; further testing may be required
Negative - No pathogenic variant detected: Does not rule out AHC; other genes such as ATP1A3 or SCN1A should be considered with clinical guidance
⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist, or paediatric neurologist if your child has recurrent episodes of alternating limb weakness, unexplained developmental delay, seizures, or a family history of ATP1A2-related disorders.

Limitations

  • ⚠This test does not detect large deletions or duplications of ATP1A2 unless CNV analysis is separately performed
  • ⚠Variants of uncertain significance (VUS) may be reported and may require additional family segregation studies
  • ⚠This test may not detect deep intronic variants, promoter variants, or structural rearrangements
  • ⚠This test is not intended for prenatal diagnosis unless specifically requested and validated

Risks & Considerations

  • ●No serious risks. Minor discomfort, bruising, or rarely local infection may occur at the needle insertion site.

Interfering Factors

  • ●Inadequate, degraded, or contaminated DNA sample
  • ●Sample mix-up or labelling errors
  • ●Mosaic variants below the detection limit of the NGS pipeline
  • ●Variants located in non-coding regulatory regions not covered by standard exon-based NGS

Compare With Similar Tests

TestATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 NGS Genetic Test
ComparisonATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 NGS Genetic Test

Frequently Asked Questions

What is Alternating Hemiplegia of Childhood Type 1?
AHC Type 1 is a rare neurological disorder associated with pathogenic variants in ATP1A2. It is characterised by recurrent episodes of weakness or paralysis that affect one side of the body and can alternate sides. Additional features may include developmental delay, intellectual disability, seizures, and migraine-like events.
What is the cost of the ATP1A2 gene NGS genetic test at DNA Labs India?
The test is available at a special discounted price of Rs 20000.0 across India. Free home sample collection is included for online bookings.
Which sample is required for this test?
Blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card can be used. The appropriate sample type will be confirmed at the time of booking.
Does the test require fasting?
No, the ATP1A2 NGS genetic test does not require fasting. The child can eat and drink normally before sample collection.
How long does the report take?
Reports are generally issued in 3 to 4 weeks after the sample reaches the laboratory.
What does a positive ATP1A2 test result mean?
A positive result means a pathogenic or likely pathogenic variant in the ATP1A2 gene has been detected. This helps confirm a clinical diagnosis of AHC Type 1 and allows for informed genetic counselling and management planning.
Can a negative result completely rule out AHC Type 1?
A negative NGS result for the ATP1A2 gene does not completely exclude AHC. It reduces the likelihood of an ATP1A2-related cause, but other genes such as ATP1A3 or clinical phenocopies may still need to be considered.
What is NGS and why is it used for this test?
NGS, or Next-Generation Sequencing, is a high-throughput technology that efficiently reads the DNA sequence of multiple genes in parallel. It is a sensitive and accurate method to identify small sequence variants in ATP1A2 that could cause AHC Type 1.
Is genetic counselling included in this test?
Yes, a genetic counselling session is advised before testing to review the patient's clinical history, draw a family pedigree, and explain the benefits, limitations, and possible outcomes of the test.
Does DNA Labs India offer home sample collection for this test?
Yes, free home sample collection is available for online bookings. The service is offered across major cities in India, including Mumbai, Delhi, Bengaluru, Hyderabad, Chennai, Kolkata, and Pune.
Who should get this test done?
Children with recurrent alternating hemiplegia, paroxysmal neurological episodes, unexplained developmental delay, seizures, or a family history suggestive of ATP1A2-related disorders may be suitable candidates. The decision should be made after consultation with a neurologist or clinical geneticist.
How do I book this test?
You can book online through the DNA Labs India website or call the helpline. After booking, the sample can be collected from home at no extra charge, or you may visit the nearest collection centre.
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.