Name of the Procedure:

SMN1 (Survival of Motor Neuron 1, Telomeric) Gene Analysis; Known Familial Sequence Variant(s)

• Commonly referred to as SMN1 gene testing for spinal muscular atrophy (SMA)

Summary

The SMN1 gene analysis is a genetic test specifically designed to look for a known sequence variant within the SMN1 gene that has been identified in a family member. This analysis helps determine if an individual carries or is affected by spinal muscular atrophy (SMA), a genetic disorder characterized by muscle weakness and atrophy.

Purpose

Medical Condition:

• Addresses the genetic disorder Spinal Muscular Atrophy (SMA).

Goals:

• Identify carriers or affected individuals within a family.
• Aid in the diagnosis and management of SMA.
• Provide information for family planning and genetic counseling.

Indications

• Family history of Spinal Muscular Atrophy (SMA).
• Relatives who are known carriers of the SMN1 gene variant.
• Unexplained muscle weakness or atrophy in family members.
• Pre-symptomatic or carrier testing of at-risk individuals.

Preparation

• No special preparation such as fasting is required.
• Patient may need to provide a detailed family medical history.
• In some cases, genetic counseling may be recommended before the test.

Procedure Description

1. Sample Collection:

   • Blood sample is usually collected from the patient.
   • Alternatively, a buccal swab (cheek swab) can be used to collect cells.

2. DNA Extraction:

   • DNA is extracted from the collected sample in a laboratory.

3. Genetic Analysis:

   • PCR (Polymerase Chain Reaction) and DNA sequencing are used to analyze the SMN1 gene.
   • Specific known familial sequence variants are checked.

4. Result Interpretation:

   • Geneticists interpret the results to determine the presence or absence of the known SMN1 variant.

Duration

• Sample collection takes a few minutes.
• Genetic analysis and result interpretation can take several weeks.

Setting

• Performed in outpatient clinics, hospitals, or specialized genetic laboratories.

Personnel

• Phlebotomists or Healthcare Providers (for sample collection)
• Geneticists and Lab Technicians (for DNA analysis)
• Genetic Counselors (for pre- and post-test counseling)

Risks and Complications

• Minimal risks associated with sample collection (e.g., slight bruising from blood draw).
• Psychological impact of receiving genetic test results.

Benefits

• Early and accurate identification of carriers or affected individuals.
• Informed decision-making for family planning.
• Timely intervention and management of SMA if diagnosed early.

Recovery

• No recovery time needed for the procedure itself.
• Psychological support may be beneficial, depending on test results.

Alternatives

• Other genetic tests or screening methods.
• Clinical diagnosis based on symptoms and electromyography (EMG), though less specific.

Patient Experience

• Sample collection (blood draw or buccal swab) is quick and minimally invasive.
• Experience no pain post-procedure, other than minor discomfort at the blood draw site if applicable.
• Anxieties related to waiting for and receiving the results can be managed through genetic counseling and support services.