Skip to main content
DNA Labs India

ATP1A3 Gene CAPOS Syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ATP1A3 Gene CAPOS Syndrome NGS Genetic Test

Short Name: ATP1A3 CAPOS NGS Test

Also known as: CAPOS syndrome gene test, ATP1A3 NGS genetic test, CAPOS DNA test

ATP1A3 Gene CAPOS Syndrome 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 Final report is delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups🏠 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 NGS genetic test is to identify clinically significant variants in the ATP1A3 gene associated with CAPOS syndrome. It provides molecular confirmation for suspected CAPOS syndrome, supports differential diagnosis of hereditary ataxia, and enables informed genetic counseling.

Test Code
3945
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Final report is delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A physician or genetic counselor referral is recommended. The patient must undergo clinical and family history assessment, including drawing a pedigree chart. No special preparation such as fasting is needed.

Method: Blood Draw / FTA Card Spot

Step 2

Laboratory Analysis

A venous blood sample is drawn by a trained phlebotomist. For FTA card, one drop of blood is spotted onto the designated card. Barcode labeling and chain of custody are maintained.

Step 3

Report Delivery

No dietary or activity restriction is required. The sample is transported to the laboratory at the recommended temperature. The patient may resume normal activities immediately.

Timeline: Final report is delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A physician or genetic counselor referral is recommended. The patient must undergo clinical and family history assessment. No special preparation such as fasting is needed.
2
During the Test:A venous blood sample is drawn by a trained phlebotomist. For FTA card, one drop of blood is spotted onto the designated card. Barcode labeling and chain of custody are maintained.
3
After the Test:No dietary or activity restriction is required. The sample is transported to the laboratory at the recommended temperature. The patient may resume normal activities immediately.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify clinically significant variants in the ATP1A3 gene associated with CAPOS syndrome. It provides molecular confirmation for suspected CAPOS syndrome, supports differential diagnosis of hereditary ataxia, and enables informed genetic counseling.

How to Prepare

  • Inform the laboratory if the patient had a recent blood transfusion or bone marrow transplant.
  • Ensure the blood sample is collected in an EDTA vacutainer if venous blood is used.
  • FTA card blood spot should be allowed to dry completely before transport.
  • Label the sample container with patient name, date of birth, and collection date.

Doctor's Notes

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

"A confirmed molecular diagnosis of CAPOS syndrome can help avoid repeated unnecessary investigations and supports early referral for hearing, visual, and neurological rehabilitation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL blood or 1 FTA blood spot
ContainerEDTA vacutainer / FTA card
Collection MethodBlood Draw / FTA Card Spot

Sample Stability

EDTA blood: 24 hours at room temperature, 72 hours at 2-8°C
Extracted DNA: 7 days at -20°C
FTA card: Stable for multiple weeks at room temperature
Sample Rejection Criteria:
  • Clotted or crystallized blood sample
  • Gross haemolysis
  • Incorrectly labelled or unlabelled sample
  • Sample received in expired collection tube

Understanding Your Results

The final report must be interpreted in the context of the patient's clinical presentation. Molecular results are reviewed and reported by a clinical geneticist or genetic counselor.
📊

Pathogenic variant detected

Molecular confirmation of CAPOS syndrome when clinical criteria are met.

📊

Likely pathogenic variant detected

Molecular finding is highly suggestive; further family studies may be required.

📊

Variant of uncertain significance (VUS)

Insufficient evidence to determine if the variant is disease-causing; additional testing may be needed.

📊

No pathogenic variant detected

No disease-causing variant found in ATP1A3; other genes or causes should be considered.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you experience episodic cerebellar ataxia, sensorineural hearing loss, optic atrophy, or if a close relative has been diagnosed with CAPOS syndrome.

Limitations

  • ⚠NGS may not reliably detect large deletions, duplications, structural rearrangements, or deep intronic variants in all cases.
  • ⚠Only the ATP1A3 gene is analyzed; other genes causing overlapping phenotypes are not covered.
  • ⚠A variant of uncertain significance may require familial segregation studies and further evidence.
  • ⚠Genetic test results should not be used alone for diagnosis without clinical correlation.

Risks & Considerations

  • ●Discomfort or bruising at the needle site
  • ●Feeling lightheaded during blood draw
  • ●Emotional or psychological stress from test results

Interfering Factors

  • ●Recent allogeneic bone marrow transplantation or blood transfusion
  • ●Sample mix-up or cross-contamination
  • ●Highly degraded or low-quality DNA

Compare With Similar Tests

TestATP1A3 Gene CAPOS Syndrome NGS Genetic Test
ComparisonATP1A3 Gene CAPOS Syndrome NGS Genetic Test

Frequently Asked Questions

What is CAPOS syndrome?
CAPOS syndrome is a rare genetic neurological condition characterized by Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss. It is caused by mutations in the ATP1A3 gene.
What is the ATP1A3 gene?
The ATP1A3 gene encodes the alpha-3 subunit of sodium-potassium ATPase, an enzyme essential for maintaining cell membrane sodium and potassium gradients, especially in neurons.
How is CAPOS syndrome diagnosed?
CAPOS syndrome is diagnosed on the basis of clinical features and confirmed by genetic testing that identifies a pathogenic ATP1A3 gene mutation.
Who should consider ATP1A3 CAPOS syndrome genetic testing?
Individuals with unexplained ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss, or a family history of ATP1A3-related disorders should consider testing after evaluation by a neurologist or clinical geneticist.
What type of sample is needed for this test?
A blood sample in an EDTA tube or one drop of blood on an FTA card can be used. Extracted DNA is also accepted.
Does the test require fasting?
No, fasting is not required for ATP1A3 gene NGS testing.
How long does it take to get the report?
The report is generally available within 3 to 4 weeks after the sample reaches the laboratory.
What does a negative result mean?
A negative result means no pathogenic ATP1A3 variant was detected. This does not completely exclude CAPOS syndrome, as testing may not detect all types of mutations; clinical correlation is important.
Can this test be used for prenatal diagnosis?
This test is intended for affected individuals with clinical suspicion. Prenatal testing needs separate counseling and validation with parental samples and should be discussed with a genetics specialist.
Is genetic counseling required after the test?
Yes, genetic counseling is recommended before and after testing to explain the results, inheritance pattern, and implications for family members.
What is exactly the cost of the test?
The test price is Rs 20,000 (INR 20000) for the ATP1A3 Gene CAPOS Syndrome NGS Genetic Test in India.
Where can I book this test?
The test can be booked through DNA Labs India online. Free home sample collection is available in more than 150 cities across India; contact the lab for service details.
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.