skip navigation
A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMLPA
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.

Diagnostic Use / Indications

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

External Price$250.00(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

MLPA based assays are sensitive to the buffer used in DNA extraction processes. Due to this, our preference is to recieve 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.

Patient Specimen4.0mL EDTA
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabSame day or overnight courier, ambient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
This e-mail address is being protected from spam bots, you need JavaScript enabled to view it
Contact Phone Number03 3640 548
Test Availability9am-5pm Monday to Friday
Turnaround TimeWithin 4 weeks
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.

Additional Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.


CHL Follow us on Facebook