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Spinal Muscular Atrophy (SMA) Testing

What is SMA?

Spinal Muscular Atrophy (SMA) is a serious neuromuscular disorder caused by degeneration of the anterior horn cells in the spinal cord, resulting in progressive muscle weakness and atrophy.

Two genes are critical in SMA: SMN1 and SMN2.

Most individuals have two copies of each gene.
95–98% of SMA patients have a homozygous deletion of exon 7 in the SMN1 gene.
Carriers typically have only one copy of SMN1 exon 7.

What does the SMA test do?

The SMA genetic test is designed to:

Detect copy number changes in exons 7 and 8 of the SMN1 and SMN2 genes
Support accurate diagnosis of patients with suspected SMA
Identify carriers of SMA who may pass on the condition to their children

Testing is performed using Multiplex Ligation-Dependent Probe Amplification (MLPA), a highly sensitive and reliable method for detecting gene copy variations.

Who should consider SMA testing?

Individuals with a family history of SMA
Couples planning a pregnancy who want to assess their carrier status
Patients showing symptoms of progressive muscle weakness or suspected SMA

Specimen Requirements
Clinical usage	To detect copy number changes of exons 7 and 8 of SMN1 and SMN2 genes for patient diagnosis and carrier testing of spinal muscular atrophy by using Multiplex Ligation-Dependent Probe Amplification (MLPA).
Type of sample	For fetus: • 20ml Amniotic Fluid (Separate into two sterile 15mL conical tubes) • 30mg Tissue of Product of Conception (POC) (Sterile 50ml conical tube with Normal Saline) IMPORTANT: • For fetus or POC sample, 3ml Maternal Blood (EDTA Tube) is compulsory. (Testing for maternal cell contamination will ONLY be conducted upon request) • Specimen should not be soaked in fixatives e.g. formalin / formaldehye / alcohol For individual: • 3ml Blood (Heparin Tube) • Bone Marrow (Heparin Tube – For Leukemia only) For Newborn: • 1.5ml Blood (Heparin Tube)
Patient requirement	Gestation age for CVS: 10 -12 weeks Gestation age for Amniotic Fluid: ≥15 weeks IMPORTANT: • Please provide a copy of previous SMA DNA Test Report of Parents/Proband • Please sign the Consent on request form
Storage & transportation	Store and transport in ROOM TEMPERATURE. If the sample cannot be transported to the laboratory on the same day of collection, please store it at 2°C to 8°C.
Turnaround Time (TAT)	10 working days

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Spinal Muscular Atrophy (SMA) Testing

What is SMA?

What does the SMA test do?

Who should consider SMA testing?

At DNA LAB, we offer reference functions in molecular diagnostic and screening services for most Obstetricians, Gynaecologist, Paediatrics, Clinical Oncologists, GP Clinics, medical centres and hospitals in Malaysia.

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