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Test Identifier Information

 
Registration CodeMPST
Method

Coding regions of all 12 exons and flanking intronic sequences of the IVD gene are amplified using PCR and analysed by bi-directional automated fluorescent DNA sequencing.

Diagnostic Use / Indications

Isovaleric academia (IVA) is inherited in an autosomal recessive manner and result from mutations in the Isovaleryl CoA dehydrogenase (IVD) gene at chromosomal position 15q14. IVA is an organic aciduria resulting from disrupted amino acid (leucine) catabolism and characterised by excretion of non-amino organic acid in the urine (isovaleryl glycine). Three IVA phenotypes have been described: acute neonatal, chronic intermittent or asymptomatic, with marked intra- and interfamilial variability described.

Constituent TestsGenomic DNA Extraction ;
External Price$0.00(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen5 mL EDTA blood (see Additional Information)
Paediatric Specimen0.5 mL 1.0 mL EDTA blood
Sample Delivery to LabSame day or overnight courier, ambient temperature.
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Uncertainty of Measurement

Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
Delphic Number Test Number7302

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