Home Genetic Tests Clinical Genomics SCA Types 1,2,3,6,12
Clinical · Neurogenetics
TP-PCR · CAG Repeat · 5 SCA Types

SCA Types 1, 2, 3, 6, 12

Spinocerebellar Ataxia — Progressive Loss of Balance & Coordination. Genetic Diagnosis in 3–4 Weeks.

Spinocerebellar Ataxia (SCA) is a group of autosomal dominant inherited neurological disorders characterized by progressive degeneration of the cerebellum and its connections, causing loss of balance, coordination, and speech. All five types screened in this panel — SCA1, SCA2, SCA3 (Machado-Joseph Disease), SCA6, and SCA12 — are caused by CAG trinucleotide repeat expansions in specific ATXN genes. This TP-PCR panel accurately measures CAG repeat counts across all five ATXN genes simultaneously, providing definitive genetic diagnosis to confirm the type of SCA, guide prognosis, and support family planning for at-risk individuals.

★★★★★
5.0 (Verified clinical test) NABL & CAP lab
Sample type
Blood + Saliva
Turnaround
3–4 weeks
SCA types
1, 2, 3, 6, 12
Technology
TP-PCR
Spinocerebellar Ataxia SCA Genetic Test
Five SCA types screened simultaneously
SCA1
ATXN1 gene
CAG >38
Ataxia, dysarthria, nystagmus. Onset 30–40s. Pyramidal signs common.
SCA2
ATXN2 gene
CAG >31
Slow saccadic eye movements, ataxia, dysarthria. ALS link with 29–31 repeats.
SCA3
ATXN3 gene
CAG >60
Machado-Joseph Disease. Most common SCA worldwide. Gait problems, speech issues.
SCA6
CACNA1A
CAG >19
Late onset (50+), pure cerebellar ataxia, mild progression. Good life expectancy.
SCA12
PPP2R2B
CAG >51
Common in India. Tremor, ataxia. Earlier onset than other SCA types in South Asians.
SCA3 (Machado-Joseph Disease) is the most common SCA worldwide. SCA12 is particularly prevalent in India — reported as one of the most common SCA types in South Asian populations including Andhra Pradesh and Rajasthan. All 5 types use autosomal dominant inheritance — one parent with the condition gives 50% chance to each child.
What you'll discover

SCA type identification

Exact CAG repeat count for all 5 ATXN genes — confirms which SCA type is present and rules out others

Definitive diagnosis

Repeat length = prognosis

Longer CAG repeats generally correlate with earlier onset and faster progression — guides management planning

Anticipation effect

Family risk assessment

Each child of an affected parent has 50% risk — confirms risk for untested family members

Autosomal dominant

Diagnostic confirmation

For individuals with unexplained progressive ataxia, gait problems, or balance difficulties of unknown cause

Symptom explanation

Precision management

Knowing exact SCA type guides physiotherapy, symptom management, assistive devices, and monitoring schedule

Treatment guidance

Predictive testing

Pre-symptomatic testing for at-risk relatives — identify expansion before symptoms appear for early planning

Pre-symptomatic
How it works
1

Order online

Place your order. Home collection kit ships within 24 hours — EDTA blood tube and saliva swab included.

2

Blood + Saliva sample collection

2ml EDTA blood + saliva swab at home. Return using prepaid courier label provided in your kit.

3

TP-PCR — CAG repeat sizing for 5 genes

Triple-Repeat Primed PCR (TP-PCR) simultaneously measures CAG repeat counts in ATXN1, ATXN2, ATXN3, CACNA1A, and PPP2R2B genes in our NABL & CAP accredited lab.

4

Report + Neurologist consultation

Detailed SCA panel report in 3–4 weeks — exact repeat counts for all 5 genes, affected/normal/intermediate classification, and guidance for neurology follow-up.

Sample report preview

Your SCA Types 1,2,3,6,12 Report

A snapshot of your spinocerebellar ataxia CAG repeat analysis

SCA Type Identified
SCA3
Machado-Joseph Disease
ATXN3 CAG Repeats
72
Pathogenic (>60)
Other SCA Types
Normal
1, 2, 6, 12 — no expansion
Child Risk
50%
Autosomal dominant
CAG count — all 5 genes
Normal / Pathogenic / Intermediate
SCA type confirmation
Anticipation risk noted
Family risk implications
Clinician-ready report
Frequently asked questions
Who should consider SCA genetic testing?
SCA testing is recommended for individuals with progressive cerebellar ataxia (unsteady gait, balance problems, coordination difficulties, slurred speech) of unknown cause; anyone with a family history of SCA or hereditary ataxia; first-degree relatives of a confirmed SCA patient who want to know their own status (pre-symptomatic testing); individuals with tremor, especially those over 40 with a family history; and in India, this is especially relevant for SCA12 which is more common in South Asian populations.
Why is SCA12 especially important in India?
SCA12 has been reported with higher frequency in Indian populations compared to Western countries, with cases concentrated in states including Andhra Pradesh, Rajasthan, and Punjab. Studies from India show SCA12 may account for a significant proportion of hereditary ataxia cases in the country. Given this regional prevalence, including SCA12 in the panel alongside the globally common SCA types (1, 2, 3, 6) ensures comprehensive coverage for Indian patients.
What is genetic anticipation in SCA?
Genetic anticipation refers to the tendency for CAG repeat expansions to grow larger when passed from parent to child — particularly when transmitted by the father. Larger repeat sizes generally cause earlier disease onset and potentially more severe symptoms. This means a parent who develops SCA in their 40s may have a child who develops symptoms in their 20s or 30s. The CAG repeat count in this test helps predict this risk for future generations.
Can SCA be treated?
Currently there are no disease-modifying treatments to stop or reverse SCA progression, though several gene therapy and antisense oligonucleotide approaches are in clinical trials for SCA1, SCA2, and SCA3. Management focuses on physiotherapy to maintain mobility and balance, speech therapy for dysarthria, occupational therapy, fall prevention, and assistive devices. Knowing the exact SCA type allows neurologists to optimize this management and connect patients with relevant clinical trials.
Is pre-symptomatic testing recommended?
Pre-symptomatic testing (testing an at-risk person before symptoms appear) is possible and can inform life planning, reproductive decisions, and career choices. However, it is recommended to undergo genetic counseling before and after pre-symptomatic SCA testing, as a positive result can have significant psychological impact. Our Genomic Expert consultation can help you navigate this decision and connect you with appropriate counseling support.
MyGenoRoot AI Assistant
Ask anything about our DNA tests
Hi! I can answer your questions about MyGenoRoot's DNA tests — pricing, what's included, how testing works, and more. What would you like to know?
Ask anything about our tests — powered by AI
🧠 Clinical Neurogenetics · SCA Panel
₹19,000
  • All 5 SCA types screened simultaneously
  • SCA1, 2, 3 (MJD), 6, 12 — CAG repeat sizing
  • TP-PCR technology — gold standard
  • Includes SCA12 — common in India
  • NABL & CAP accredited lab
  • Family risk guidance included
Quantity
1
Secure checkout · SSL encrypted
Free pan-India shipping
Results in 3–4 weeks
Data never shared with insurers
NABL & CAP accredited
Genomic Expert Consultation — Available
After results, our Genomic Expert connects you with neurology specialists and guides family planning and pre-symptomatic testing decisions.
Appointment link sent via email after order confirmation.
NABL & CAP

Accredited lab

TP-PCR

Gold-standard method

5 SCA Types

1, 2, 3, 6, 12

ISO 27001

Data security

100% Private

GDPR compliant

Related tests
People also explore

Complement your SCA genetic analysis

Related
SMA Carrier Analysis

Spinal Muscular Atrophy — another inherited neurological condition causing progressive muscle weakness. Often evaluated alongside SCA for comprehensive neurogenetic assessment.

₹6,000
Advanced
Whole Exome Sequencing

If SCA panel is negative but ataxia continues, WES sequences all 23,000 protein-coding genes — identifying rare ataxia-causing variants beyond the common SCA types.

₹26,000
Related repeat
Fragile-X Syndrome

Another trinucleotide repeat expansion disorder (CGG repeat in FMR1) — FXTAS in premutation males presents with ataxia and tremor, sometimes confused with SCA.

₹10,500

Shipping Details

Where should we deliver your Beta-Thalassemia Screening kit?

Recipient name is required
Enter a valid 10-digit phone number
Address is required
City is required
Select your state
Enter a valid 6-digit pincode