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Molecular Genetics

The molecular section works alongside the other sections of the Wellington Regional Genetics Laboratory (WRGL), providing high quality DNA for downstream applications performed in our own laboratory and elsewhere. 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:

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  • Automated DNA extraction from a variety of tissues, with a number of manual approaches also available. The DNA produced is of high quality and suitable for all downstream applications including MLPA and microarray.
  • Repeat expansion testing for Fragile X syndrome / FXTAS / FXPOI.
  • Prader-Willi syndrome (PWS) and Angelman syndrome (AS) testing including copy number determination, methylation analysis and uniparental disomy (UPD) 15 testing.
  • Deletion / duplication analysis for Duchenne Muscular Dystrophy / Becker Muscular Dystrophy (DMD / BMD) by MLPA
  • Deletion / duplication analysis for Charcot-Marie-Tooth disease (CMT, HMSN) and hereditary neuropathy with liability to pressure palsies (HNPP) by MLPA.
  • SMN1 / SMN2 copy number analysis for spinal muscular atrophy (SMA) by MLPA
  • Exclusion of maternal cell contamination (MCC).
  • Chimerism analysis for post-transplant monitoring of bone marrow transplants.
  • Analysis for the 50 most common CFTR pathogenic variants associated with cystic fibrosis (CF).
  • Repeat expansion testing for Huntington disease (HD).
  • Repeat expansion analysis for myotonic dystrophy type 1 (DM1)
  • Repeat expansion testing of the C9orf72 gene associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)
  • Repeat expansion analysis for spinobulbar muscular atrophy (SBMA / Kennedy Disease)
  • Repeat expansion analysis for the most common types of spinocerebellar ataxia (SCA) - SCA1, 2, 3, 6 and 7.
  • Repeat expansion analysis for dentatorubral-pallidoluysian atrophy (DRPLA)
  • Dispatch of DNA samples to national and international laboratories for tests that are not offered in this laboratory.

The molecular section participates in a number of external quality assurance schemes managed by the Royal College of Pathologists of Australasia (RCPA), the European Molecular Genetics Quality Network (EMQN), Genomics Quality Assessment (GenQA) and the Cystic Fibrosis European Network.  The laboratory adheres to international best practice guidelines for laboratory testing.

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

 

 


 

ABOUT US

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

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CONTACT US

(04) 918-5352
wrgl@ccdhb.org.nz