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Spinal Muscular Atrophy
Short Description : Spinal muscular atrophy genetic testing
Also known as : [Familial Motor Neurone Disease],[Kugelberg-Welander],[Motor Neurone Disease],[Werdnig-Hoffman]
DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics
Referral Requirements
Important Note:
Requires clear diagnostic referral.
Diagnostic referrals accepted from Paediatrics, Neurology or Genetic Services.
Carrier testing accepted from Genetic Services.
Contacts:
Genetic Health Service NZ can be contacted on 0800 476 123.
Neurology can be contacted on (09) 307 4949 ext. 25662.
General Paediatrics can be contacted on (09) 307 4949 ext. 22559.
Specimen Collection
4 mL Paediatric EDTA Blood (Preferred)
Note:
For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)
Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.
For testing of other sample types please contact the laboratory prior to sending.
8 mL Adult EDTA Blood
Turnaround Time: Within 6 weeks
Contact Information
To contact the Molecular Genetics team:
Background Information
SMA is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei. Onset ranges from before birth to adolescence or young adulthood. Poor weight gain, sleep difficulties, pneumonia, scoliosis, and joint contractures are common complications.
The two genes associated with SMA are
SMN1
and
SMN2
. The
SMN1
(survival motor neuron 1) gene is believed to be the primary disease-causing gene. About 95%-98% of individuals with SMA are homozygous for the absence of exons 7 and 8 of
SMN1
and about 2%-5% are compound heterozygotes for absence of exons 7 and 8 of
SMN1
and a point mutation in
SMN1
.
For more information about the Molecular Genetics service:
Molecular Genetics information page
Last updated at 15:45:21 07/03/2024