Molecular Genetics

The molecular section provides a complementary service to the other sections of the Wellington Regional Genetics Laboratory (WRGL). Our focus is to provide high quality DNA for downstream applications some of which are performed in our own laboratory. We also provide a DNA sendaway service for genetic testing which is unavailable in our laboratory.

We work closely with the rest of the laboratory and the clinical service (Genetic Health Service NZ) to provide the following diagnostic services:

Molecular Genetic Test
  • DNA extraction from a variety of tissues using a number of manual approaches.  In the future this process will be automated.  The DNA produced is of high quality and suitable for all downstream applications including MLPA and microarray.
  • Dispatch of DNA samples to national and international laboratories for tests that are not offered in this laboratory.
  • Fragile X testing.
  • Prader-Willi and Angelman syndrome testing including methylation analysis and uniparental disomy (UPD) 15 testing.
  • MLPA (multiplex ligation-dependent probe amplification) and limited Sanger sequencing analysis for the BRCA1 & BRCA2 genes.
  • Ashkenazi Jewish BRCA mutation screening by Sanger sequencing.
  • MLPA for Duchene Muscular Dystrophy/Becker Muscular Dystrophy
  • MLPA for Charcot-Marie-Tooth disease (CMT, HMSN) and hereditary neuropathy with liability to pressure palsies (HNPP).
  • MLPA for spinal muscular atrophy (SMA).
  • Exclusion of maternal cell contamination (MCC).
  • Chimerism analysis for post-transplant monitoring of bone marrow transplants.
  • Cystic fibrosis testing.
  • Huntington disease testing.

The molecular section participates in a number of external quality assurance schemes managed by the Royal College of Pathologists of Australasia (RCPA).  International best practice guidelines for laboratory testing are adhered to.

WRGL also facilitates access to the Percept NIPT test available from VCGS.





Wellington Regional Genetics Laboratory (WRGL) provides a comprehensive, integrated diagnostic cytogenetic and molecular genetic testing service

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(04) 918-5352