Isovaleric Academia: IVD Gene Sequencing

Diagnostic Use

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.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Constituent Tests

• Genomic DNA Extraction

Synonyms

Isovaleryl CoA dehydrogenase

Turnaround Time

4 weeks

Test Code

7302

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

5.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
Same day or overnight courier

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Please do not centrifuge or freeze blood samples.
Same day or overnight courier

Test 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.

Contact Canterbury Health Laboratories on +64 3 364 0484 or email LabInfo@cdhb.health.nz

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.

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.

Contact Information

Enquiry Form