Jennifer Ong1, Con Ngo1, Shubha Srinivasan2, Komal Vora2, Meredith Wilson3, Dale Wright1 1 Department of Cytogenetics, The Children’s Hospital at Westmead, Corner Hawkesbury Road Hainsworth Street, Westmead, NSW, 2145. 2 Department of Endocrinology and Diabetes, The Children’s Hospital at Westmead,...
- February 15, 2017
Rebecca Reid1, Jodie Fitness 1, Emmie Pushkareff 1, Redmond Orth 1, Aynsley Bryce 1, Nick Hovey 1, Dr Melody Caramins 2, Dr Nicole Chia1 1 Queensland Medical Laboraory, Metroplex on Gateway, 11 Riverview Pl, Murarrie, QLD, 4172 2 Genomic Diagnostics,...
- February 15, 2017
Melinda Richter1, Nicole Martin1, Peter Field1 1 Virtus Diagnostics – QFG Genetics, Level 1 Boundary Court, 55 Little Edward Street, Brisbane, QLD, 4000 Cystic Fibrosis is the most common severe autosomal recessive disease in those individuals with Northern European...
- February 15, 2017
Monica Runiewicz Introduction: Cystic fibrosis is an autosomal recessive chloride ion channelopathy causing disruption of exocrine function of the pancreas, intestinal glands, biliary tree, bronchial glands and sweat glands. Pre-conception carrier screening for cystic fibrosis is common. The molecular...
- February 15, 2017
Louisa Sanchez 1, Evelyn Douglas1, Linda Burrows1, Kathy Cox1, Maely Gauthier2, Karin Kassahn2, Sam Crafter3, Lesley McGregor4, Chris Barnett4, Kathie Friend1. 1 Molecular Genetics Unit, SA Pathology, North Adelaide, South Australia 2 Technology Advancement Unit, SA Pathology, Adelaide, South Australia...
- February 15, 2017
Priscillia Siswara1, Nadine Taubenheim1, Elizabeth M. Algar1,2 1 Genetics and Molecular Pathology Laboratory, Monash Health, 246 Clayton Road, Victoria, 3168 2 Hudson Institute of Medical Research, 27-31 Wright Street, Victoria, 3168 Disorders of genomic imprinting are rare developmental disorders...
- February 15, 2017
Ling Sun1, Lucy Gugasyan1, Matthew Hunter2, Abhijit Kulkarni1 1Cytogenetics, Monash Health, 246 Clayton Road, Clayton, 3168, VIC 2Monash Genetics, Monash Health, 246 Clayton Road, Clayton, 3168, VIC Orofaciodigital syndrome has an estimated incidence of 1 in 50,000 to 250,000...
- February 15, 2017
Absera Tsegay1, Nicola Flowers1, Olivia Giouzeppos1, Grace Shi1, Damien Bruno1, Mark Pertile1,2 1Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia. 2Department of Paediatrics, University of Melbourne, Parkville, Australia. Noninvasive prenatal testing (NIPT) uses massive parallel sequencing to test...
- February 15, 2017
Andrea P. Twomey1, Paisu Tang1, Anke E. Kohfahl1, David Amor2, Sharyn E. Stock-Myer1 1Virtus Diagnostics, Melbourne IVF, 344 Victoria Parade, Victoria 3002 2Department of Paediatrics, University of Melbourne, Level 2, West Building Royal Children’s Hospital, 50 Flemington Road, Victoria 3052...
- February 15, 2017
Violeta Velkoska-Ivanova1, Ellen Casey1 1Australian Clinical Laboratories, Clayton, Melbourne Case 1: Trisomy 10p is a relatively well-characterized chromosomal abnormality that may occur through a variety of cytogenetic mechanisms including malsegregation of familial balanced translocation, duplication or supernumerary chromosome. However,...
- February 15, 2017
