Spinal Muscular Atrophy (SMA) – STAT Genetic Test

Test Description

The Fact DNA Spinal Muscular Atrophy (SMA) STAT Genetic Test analyzes the copy number of the SMN1 gene, which is strongly associated with spinal muscular atrophy (SMA), an inherited neuromuscular disorder that affects motor neurons and can cause progressive muscle weakness and muscle loss.

The test also evaluates SMN2 copy number when a homozygous deletion of SMN1 is identified. SMN2 copy number can provide additional information about the potential severity of SMN1-related SMA.

What Does the Test Evaluate?

• SMN1 copy number to identify deletions associated with SMA
• SMN2 copy number, when applicable, to provide additional information that may help estimate disease severity
• Genetic information that may assist healthcare professionals in evaluating individuals with suspected or confirmed SMA

Important: This test is designed to evaluate SMN1 copy number and does not detect all SMN1 sequence variants. Additional genetic testing may be appropriate depending on the patient's clinical history and circumstances.

Rapid Results for Time-Sensitive Decisions

The STAT testing option offers an accelerated turnaround time of approximately 4 days, which may be particularly valuable when rapid genetic information is needed to support clinical evaluation and healthcare decisions.

Early identification of SMA may be important because disease progression can begin early in life. When SMA is identified, genetic information can help healthcare professionals determine appropriate next steps, including consideration of available or emerging treatment options.

Fact DNA helps connect patients and healthcare professionals with genetic testing that can provide important information for more informed healthcare decisions.

Genetic testing should be interpreted by a qualified healthcare professional in conjunction with the patient's medical and family history. Test results are not intended to diagnose or predict disease severity on their own.