LabPLUS is part of Auckland District Health Board
and provides medical laboratory testing
| Services |
MOLECULAR GENETICS TESTS - SPINAL MUSCULAR ATROPHY |
| Background: Spinal muscular atrophy (SMA) is an autosomal recessive disorder, which has been mapped to chromosome 5q11.2-q13.3. Childhood-onset proximal SMA is characterised by degeneration of anterior horn cells of the spinal cord leading to symmetrical limb and trunk paralysis. SMA is the second most common fatal autosomal recessive disease of early life after cystic fibrosis, with an incidence of between 1 in 6,000 to 1 in 10,000 live births. Depending on the clinical severity SMA is classified into types I, II and III. Type I, Werdnig-Hoffman disease is lethal in infants and manifests at birth or within 6 months of age. These patients never sit unaided. Type II patients sit, but never walk unaided and survival depends on how much the respiratory muscles are affected. Type III SMA, Kugelberg-Welander disease, is a relatively mild disorder with onset in adolescence or later. Analysis:
Blood: 3 x 4.0mL whole blood into EDTA tubes . Invert several times to mix. Forward within 24-48 hours at ambient temperature. Paediatric Samples: Minimum of 3mL whole blood in EDTA tubes. Prenatal Samples:
200 mg of tissue. Specimen must be snap frozen within one hour of collection. Send specimen frozen on dry ice. Paraffin blocks of tissue are also acceptable. The tissue sample should not have had prolonged immersion in formalin before embedding. NOTE:
6 weeks once patient sample/s is received. Cost of test: SMA - $635 Note: Prices excludes GST (12.5%) and may change without notice. Please click on a link below to view information about another specific test.
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