MLPA can be requested secondary to gene sequencing if this has failed to identify causative variant/s, or for some genes where deletions/duplications are a common cause of disease as a first tier test.
Genes available for MLPA testing currently:
HBA1 & HBA2
CMTIA & HNPP
SDHC, SDHD, SDHAF1 & SDHAF2
Genetics - Molecular Pathology
MLPA based assays are sensitive to the buffer used in DNA extraction processes. Due to this, our preference is to receive whole blood (EDTA) which will then be extracted at Canterbury Health Laboratories. Processing of DNA extracted at other centers may result in a request for a new sample if the analysis is compromised.
This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
Deliver same day or overnight courier, ambient.
Ambient (8 - 24 degrees Celsius)
Analysis and interpretation of this assay requires knowledge of the biological sex of the patient being tested. Please assist us in delivering quality results by providing accurate biological sex information on all referrals for this testing.
Multiplex Ligation-Dependent Probe Amplification (MLPA) is used to detect large deletions or insertions of part of a gene. Probe mixes from MCR Holland specific to the gene/s of interest are hybridised to a patient sample and relative amounts of probe amplification reflect the copy number of target sequences.
$271.81 (Exclusive of GST)
Uncertainty of Measurement:
MLPA will not detect: (1) Pathogenic single nucleotide variants within the gene, (2) Variants that lie outside the probe's target sequence, and (3) Any deletions, duplications, inversions, or translocations that result in a neutral copy number.
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