LabPLUS is part of Auckland District Health Board
and provides medical laboratory testing
| Services |
MOLECULAR GENETICS TESTS - ADRENOLEUKODYSTROPHY |
| Background: Adrenoleukodystrophy (ALD) is a term used to describe a wide variety of phenotypes from two different genetically determined peroxisomal disorders. Both affect the adrenal cortex and central nervous system (CNS) myelin. The disease is characterised by abnormal levels of very long chain fatty acids ( VLCFAs), particularly hexacosanoic acid ( C26:0), in the tissues and body fliuds. Mutations in one genetic locus lead to an autosomal recessive form, Neonatal ALD. This form of ALD resembles Zelleweger cerebrohepatorenal syndrome, in that the function of at least 5 peroxisomal enzymes is impaired. The X-linked form involves a biochemical confined to the peroxisomal metabolism of very long-chain fatty acids. Peroxisome structure, morphology and number are normal. Carrier and prenatal testing can be offered after the causative mutation has been identified in the proband. 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:
Maternal cell contamination is a potential problem when analysing DNA from CVS samples or cultured amniotic cells. To rule out the presence of maternal cell contamination a peripheral blood specimen in EDTA from the mother must be sent with the prenatal sample (minimum 3ml whole blood in EDTA required). Tissue: 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: Referral reason plus adequate information and family history must be submitted with the specimen. Pedigree must be included where appropriate. Usual test turnaround time: 6 weeks once sample is received. Cost of test: ALD - $1295 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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