SCA Panel

• Test Name: SCA Panel Test
• Test Type: Genetic test
• Specimen Required: Blood sample or buccal swab
• Methodology: Polymerase chain reaction (PCR) and/or next-generation sequencing (NGS)
• Purpose: Detects genetic mutations associated with Spinocerebellar Ataxia (SCA).

• Diagnosis: Identifies specific genetic mutations responsible for different types of Spinocerebellar Ataxia.
• Risk Assessment: Evaluate the risk of developing SCA in individuals with a family history of the condition.
• Carrier Screening: Determines if an individual is a carrier of SCA-related genetic mutations.
• Genetic Counseling: Provides information for genetic counselling and family planning.

• Components:
  • Test kit with collection materials for blood or buccal swab samples.
  • Detailed instructions for specimen collection and shipping.
  • Reagents and consumables for DNA extraction, amplification, and sequencing.
• Procedure:
  • Collection of a blood sample or buccal swab from the patient.
  • Laboratory extraction of DNA from the sample.
  • PCR and/or NGS to identify mutations in genes associated with SCA.
  • Bioinformatics analysis to interpret genetic data.

• Positive Result: Indicates the presence of pathogenic mutations in SCA-related genes, confirming a diagnosis of Spinocerebellar Ataxia or carrier status.
• Negative Result: Indicates no detectable pathogenic mutations in the tested genes, reducing the likelihood of SCA but not entirely ruling it out.
• Variants of Uncertain Significance (VUS): Identifies genetic variants whose association with SCA is not currently well understood.
• Clinical Correlation: Results should be correlated with clinical symptoms and family history for a comprehensive diagnosis.

• Qualitative: Indicates the presence or absence of specific genetic mutations.
• Detailed Report: Provides information on identified mutations, their clinical significance, and recommended follow-up actions.
• Turnaround Time: Typically ranges from a few weeks to a couple of months, depending on the complexity of the analysis.

Q. What is the SCA Panel Test?
The SCA Panel Test is a genetic test that identifies mutations in genes associated with Spinocerebellar Ataxia (SCA), helping diagnose and assess the risk of this hereditary condition
 

Q. Who should consider taking the SCA Panel Test?
Individuals with symptoms of ataxia, those with a family history of Spinocerebellar Ataxia, or those planning family decisions and concerned about carrier status should consider this test
 

Q. How is the SCA Panel Test conducted?
A blood sample or buccal swab is collected from the patient, and the DNA is extracted and analyzed in a laboratory using PCR and/or next-generation sequencing to detect SCA-related genetic mutations
 

Q. What does a positive result mean on the SCA Panel Test?
A positive result indicates the presence of pathogenic mutations in SCA-related genes, suggesting a diagnosis of Spinocerebellar Ataxia or carrier status for the condition

Q. Do I need to prepare for the SCA Panel Test?
No special preparation is required for the SCA Panel Test. Follow the instructions for sample collection provided in the test kit
 

Q. How long does it take to receive results from the SCA Panel Test?
The turnaround time for receiving results typically ranges from a few weeks to a couple of months, depending on the complexity of the genetic analysis
 

Q. What should I do if my SCA Panel Test result is positive?
If your test result is positive, consult with a genetic counsellor or your healthcare provider to discuss the implications, possible treatments, and steps for managing or monitoring the condition.