Name of the Procedure:

ASPA (Aspartoacylase) Gene Analysis for Common Variants (e.g., E285A, Y231X)

Summary

ASPA gene analysis is a genetic test used to identify variations in the ASPA gene, which are often associated with Canavan disease. The test specifically looks for common mutations such as E285A and Y231X.

Purpose

The procedure aims to diagnose Canavan disease, a rare inherited disorder that primarily affects the brain. By identifying mutations in the ASPA gene, healthcare providers can confirm a diagnosis, which allows for accurate genetic counseling and the development of an appropriate treatment plan.

Indications

• Suspected Canavan disease in a patient based on clinical signs and symptoms, such as developmental delay or neurological deficits.
• Family history of Canavan disease or known carrier status.
• Carrier testing for individuals with a family history of the disorder who are planning to conceive.

Preparation

• No special preparations such as fasting or medication adjustments are usually required.
• Pre-test genetic counseling may be advised to discuss the implications of the test results.

Procedure Description

1. Sample Collection: A blood sample is collected from the patient.
2. DNA Extraction: The DNA is isolated from the blood cells.
3. Gene Analysis: Specialized laboratory techniques are used to analyze the ASPA gene for common variants like E285A and Y231X.
4. Result Interpretation: The geneticist interprets the results and communicates them to the patient’s healthcare provider.

No anesthesia or sedation is required as the procedure is non-invasive.

Duration

The blood draw takes a few minutes. The overall turnaround time for lab results can vary but generally takes about 2 to 4 weeks.

Setting

The blood sample collection is typically done in an outpatient clinic, doctor's office, or hospital lab.

Personnel

• Phlebotomist or nurse for blood draw.
• Geneticist or laboratory technician for analysis.

Risks and Complications

• Minimal risks associated with blood draw, such as bruising or slight discomfort.
• Psychological impact of test results, necessitating genetic counseling.

Benefits

• Provides a definitive diagnosis of Canavan disease.
• Enables informed family planning and early intervention strategies.
• Facilitates access to appropriate support services and clinical trials.

Recovery

• No physical recovery required from the blood draw.
• Follow-up genetic counseling sessions to discuss the results and next steps.

Alternatives

• Other genetic testing methods or panels that include a broader range of potential mutations.
• Biochemical tests measuring N-Acetylaspartic acid levels in urine can be indicative but are less specific.

Patient Experience

• Mild discomfort from the blood draw.
• Emotional impact from awaiting results or receiving a diagnosis.
• Genetic counseling is often recommended to help manage emotional and psychological effects.