Skip to main content
DNA Labs India

CAMTA1 Gene Cerebellar Ataxia, Nonprogressive, with Mental Retardation NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CAMTA1 Gene Cerebellar Ataxia, Nonprogressive, with Mental Retardation NGS Genetic Test

Short Name: CAMTA1 Genetic Test

Also known as: CAMTA1 Ataxia, Nonprogressive Cerebellar Ataxia with Intellectual Disability

CAMTA1 Gene Cerebellar Ataxia, Nonprogressive, with Mental Retardation 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) Genetic Test🏠 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 diagnose CAMTA1 Gene Cerebellar Ataxia by detecting pathogenic mutations in the CAMTA1 gene through advanced NGS technology, facilitating early intervention and family genetic counseling.

Test Code
1537
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

No specific preparation is required, but ensure the patient's clinical history and family pedigree are documented as per pre-test information.

Method: Venipuncture for blood or Dried Blood Spot for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture; alternatively, a dried blood spot on an FTA card can be used.

Step 3

Report Delivery

Sample is stored at ambient room temperature and transported to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss implications, draw a family pedigree, and obtain informed consent.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Results reviewed by a geneticist; genetic counseling provided for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose CAMTA1 Gene Cerebellar Ataxia by detecting pathogenic mutations in the CAMTA1 gene through advanced NGS technology, facilitating early intervention and family genetic counseling.

How to Prepare

  • Use aseptic technique for blood draw
  • Label samples correctly with patient details
  • For FTA cards, ensure proper drying and storage

Doctor's Notes

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

"Genetic testing for CAMTA1 gene mutations is critical for confirming diagnosis in suspected cases, guiding family counseling, and informing management strategies for this nonprogressive condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 ml blood or as required for DNA extraction
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood or Dried Blood Spot for FTA card

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at 2-8°C for up to 7 days
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrectly labeled or unlabeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CAMTA1 gene. Positive results confirm diagnosis, while negative results may require further clinical evaluation.
Positive: Pathogenic mutation detected – indicates CAMTA1 Gene Cerebellar Ataxia
Negative: No pathogenic variants found – condition unlikely but clinical correlation needed
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of uncoordinated movement, speech delays, or intellectual disabilities are present, especially with a family history of similar conditions.

Limitations

  • ⚠May not detect all rare or novel mutations in the CAMTA1 gene
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not assess other genes associated with similar phenotypes

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential emotional impact from genetic results

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Previous blood transfusions within a specified period

Compare With Similar Tests

TestCAMTA1 Gene Cerebellar Ataxia, Nonprogressive, with Mental Retardation NGS Genetic TestSpinocerebellar Ataxia PanelChromosomal Microarray
ComparisonCAMTA1 Gene Cerebellar Ataxia, Nonprogressive, with Mental Retardation NGS Genetic TestBroader panel covering multiple ataxia genes, but more expensive and time-consuming.Detects chromosomal abnormalities but not specific gene mutations like CAMTA1.

Frequently Asked Questions

What is CAMTA1 Gene Cerebellar Ataxia?
It is a rare genetic disorder causing nonprogressive cerebellar ataxia and mental retardation due to mutations in the CAMTA1 gene.
How is the condition diagnosed?
Diagnosis is confirmed through NGS genetic testing to identify mutations in the CAMTA1 gene from a blood or DNA sample.
What are the main symptoms?
Symptoms include difficulty with coordination, unsteady gait, speech problems, and intellectual disabilities, typically appearing in childhood.
Is this condition progressive?
No, CAMTA1 Gene Cerebellar Ataxia is nonprogressive, meaning symptoms do not worsen over time.
What is the cost of the genetic test at DNA Labs India?
The test costs INR 20,000, with free home sample collection available across India.
How is the sample collected?
A blood sample is collected via venipuncture, or a dried blood spot on an FTA card can be used.
Is home collection available?
Yes, free home sample collection is offered for online bookings in numerous cities.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is the test accurate?
Yes, NGS genetic testing is highly accurate for detecting mutations, but results should be interpreted by a genetic specialist.
Who should consider getting tested?
Individuals with symptoms of nonprogressive ataxia and mental retardation, or those with a family history of the condition.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to discuss implications, results, and family planning.
What is the management for this condition?
Management focuses on supportive care, such as physical therapy and educational support, as there is no cure; early diagnosis aids in planning.
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.