Name of the Procedure:

ATXN10 (ataxin 10) Gene Analysis

Summary

ATXN10 gene analysis is a genetic test performed to evaluate the ATXN10 gene for anomalies, such as expanded alleles, which may cause spinocerebellar ataxia (SCA). This procedure involves collecting a sample of the patient's DNA and analyzing it in the laboratory for mutations that indicate the presence of SCA.

Purpose

This procedure is designed to detect abnormalities in the ATXN10 gene that are associated with spinocerebellar ataxia, a condition that affects coordination, balance, and speech. The aim is to confirm a diagnosis of SCA, guide treatment, and provide genetic counseling.

Indications

• Symptoms of spinocerebellar ataxia such as difficulty with balance and coordination, speech problems, and poor muscle control.
• Family history of SCA.
• Unexplained progressive neurological symptoms.

Preparation

• No special preparation is typically required.
• Inform the healthcare provider about any medications being taken.
• Family history and previous medical records may be reviewed.

Procedure Description

1. Sample Collection: A small sample of blood or saliva is collected from the patient.
2. DNA Extraction: The DNA is extracted from the sample in a laboratory setting.
3. Gene Analysis: The ATXN10 gene is analyzed to detect any abnormalities or expanded alleles indicative of SCA.
4. Results Report: The findings are summarized in a genetic report which is shared with the healthcare provider.

Duration

The initial sample collection takes a few minutes. Genetic analysis in the laboratory may take several days to a few weeks, depending on the complexity of the tests and lab processing times.

Setting

Blood or saliva sample collection is usually done in an outpatient clinic, laboratory, or doctor's office.

Personnel

• Geneticist or genetic counselor.
• Lab technicians.
• Healthcare providers involved in patient care coordination.

Risks and Complications

• Minor discomfort or bruising at the site of blood sample collection.
• Very low risk of infection from the sample collection process.
• Emotional or psychological impact of genetic results.

Benefits

• Accurate diagnosis of spinocerebellar ataxia.
• Informed decisions about management and care.
• Genetic counseling for family planning and understanding inherited risks.

Recovery

• No recovery time is needed after the sample collection.
• Follow-up appointments might be scheduled to discuss results and next steps.

Alternatives

• Clinical assessment and neurological exams for initial screening.
• Other genetic tests to identify different types of ataxias or related genetic conditions.

Patient Experience

• During the procedure: minor discomfort from blood draw or no discomfort from saliva sample collection.
• After the procedure: relief from having a clearer understanding of their condition; some may experience anxiety while awaiting results.