Spinal Muscular Atrophy (SMA) Copy Number Test

Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease caused by loss of functional SMN1 gene copies, leading to progressive muscle weakness and motor neuron degeneration.

Indications: Why test SMN1 / SMN2?

Infants or children exhibiting hypotonia ("floppy baby"), motor delay, or weakness.
Pre-conception carrier screening for prospective parents.
Determining SMN2 copy number to assess eligibility for targeted gene therapies.

When should I take the test? At birth/infancy if symptomatic, or during pre-conception screening.

Do I need to fast or prepare? No fasting or special preparation required.

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Test Summary Specs

Turnaround Time	7 to 10 Business Days
Estimated Cost	KES 25,000 – KES 35,000
Methodology	Targeted PCR / Sanger / NGS Variant Panel
Sample Type	5 mL Peripheral Whole Blood (EDTA), Buccal Swabs, or Prenatal Samples
Clinical Use	Diagnostic Confirmation, Carrier Screening, Reproductive Risk Assessment