MLPA deletion/duplication analysis

Diagnostic Use

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:
CFTR
HBA1 & HBA2
CMTIA & HNPP
LDLR
MECP2
MEN1
RB1
SDHC, SDHD, SDHAF1 & SDHAF2
SLC26A4
SMN1
VHL

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Turnaround Time

4 weeks

Specimen Type

• Whole Blood
• DNA extract

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

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

Pre-testing Requirements

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.

Additional Specimen Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
Deliver same day or overnight courier, ambient.

While not our preference, an aliquot of DNA extracted by another accredited diagnostic laboratory is also an acceptable sample type. DNA extracts should be at least 20uL of DNA at a concentration no less than 20ng/uL. Please contact the laboratory to discuss specific requirements if the available DNA does not meet these standards.

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

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.

Test Method

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.

Non-Funded Test Cost

$301.09 (Exclusive of GST)

Billing Code

9580

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.

Contact Information

Enquiry Form