Friday 31st March 2017

0800-1100 Exhibition Build
1100-1500 Exhibition Bump In
1200 Registration Opens
Opening Session | CCH 2/3, Level 2
Chair: Mark Pertile
1325-1330 Welcome | ASDG 2017 Chair Olivia Giouzeppos 
1330-1415 MCRI Headshots 2014Invited Speaker: Professor David Amor
Lorenzo and Pamela Galli Chair in Developmental Medicine, University of Melbourne
Genetic diagnosis of intellectual disability and autism: Past, present and future
1415-1430 Four years of CMA: Ebbs and flows in prenatal cytogenetics
Lorna Williams (Ed Krumins award candidate)
1430-1445 Array CGH in prenatal diagnosis: a review of alternative approach?
Abhijit Kulkarni
1445-1500 Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray – introduction of an efficient two-step protocol
Paul De Fazio
1500-1530 Afternoon Tea in the Exhibition Hall CCH 1
Plenary Session | CCH 2/3, Level 2
Chair: Peter Taylor
1530-1545 Assessing unknown sequence variations in thalassaemia diagnosis
Kerryn Weekes
1545-1600 Mosaic RYR2 mutation identified in a childhood-onset cardiac disorder
Daniel Flanagan
1600-1615 Spinal muscular atrophy and next gen sequencing – can it really be that difficult?
Peter Field
1615-1630 Finding the lost CARRIERS of FRIEDREICH ATAXIA
Hazel Phillimore
1630-1645 Genomics delivering molecular diagnosis in the complex Inherited Retinal Dystrophies
Benjamin Nash (Ed Krumins award candidate)
1645-1700 Inversions within the MSH2 gene 
Anna Ritchie
1700-1715 The honour of winning Ed Krumins award – feedback from Molecular Medicine Tri Con 2017, San Francisco, USA
Abhijit Kulkarni

Welcome Reception in the Exhibition  CCH 1, Level 2crown

Welcome to the Interim Scientific Meeting of the Australasian Society of Diagnostic Genomics.  This is the first social opportunity to catch up with your interstate colleagues and sponsors and exhibitors of the Meeting.  The welcome reception also provides a great opportunity to meet delegates who are attending this series of meetings for the first time.

The Welcome Reception is included in all full registrations and Friday Day registrations..  Additional tickets for day delegates and guests can be purchased.  Book during registration or by emailing the secretariat.  The Welcome includes canapes and drinks.


Saturday 1st April 2017

0730 Registration
Plenary Session | CCH 2/3, Level 2
Chair: Abhijit Kulkarni
0830-0915 dom_150Invited Speaker: Dominic J. McMullan BSc FRCPath
Consultant Registered Clinical Scientist, West Midlands Regional Genetics Laboratories, Birmingham, United Kingdom
Clinical Genomics in the UK; more seismic changes ahead?
Plenary Session | CCH 2/3, Level 2
Chair: Sarah Moore
0915-0930 Cryptic end-to-end chromosome joining in the dic(20;22) points to telomere fusion as a significant mechanism for dicentric chromosome formation in myeloid malignancy
Ruth MacKinnon
0930-0945 Improved detection of cytogenomic prognostic markers by chromosome microarray in a group of clinically heterogeneous neuroblastoma patients
Dale Wright
0945-1000 Molecular subtyping of medulloblastoma
Rachel Fraser
1000-1030 Morning Tea in the Exhibition CCH 1, Level 2
Plenary Session | CCH 2/3, Level 2
Chair: Dale Wright
1030-1045 The lumpiness of the “CNVome” !  Why is it so? …and what does it tell us?
Greg Peters
1045-1100 Fragile X syndrome FMR1 CGG retractions; Not so rare?
David Francis
1100-1115 PGD for reciprocal translocations using next-generation sequencing
Mirjana Martic
1115-1130 PGD for reciprocal translocation and CNVs using Karyomapping
Sharyn Stock-Myer
1130-1145 PGD for HLA matching and mutation detection by Karyomapping
Paisu Tang
1145-1200 Trisomy 2 mosaicism with high trisomic fraction identified by cell-free DNA screening is associated with an increased risk for adverse feto-placental outcomes
Mark Pertile
1200-1330 Lunch in the Exhibition CCH 1, Level 2
1300-1330 Poster Session (poster authors to stand by their posters to answer questions from delegates)
1330-1530 Concurrent Workshops (please indicate which you want to attend during registration)
Click here for more information
Workshop 1: Bioinformatics Workshop | CCH 2
Chair: Dr Sebastian Lunke & Roxane Legaie
Workshop 2: Microarray Analysis and Case Workshop | CCH 3
Chair: Amber Boys
An interactive bioinformatics workshop covering different areas of bioinformatics for diagnostic genomics. A workshop covering 3 categories relevant to microarray analysis, interpretation, and reporting.
1530-1600 Afternoon Tea in the Exhibition CCH 1, Level 2
Plenary Session | CCH 2/3, Level 2
Louise Carey
1600-1700 ingrid-winship_150Invited Speaker: Professor Ingrid Winship
Chair of Adult Clinical Genetics, University of Melbourne; Executive Director of Research, Melbourne Health.
Great testing, better care 
 1900 till late Conference Dinner | Aerial (How to get to Aerial)
aerial_200wideGoogle walking map, Crown to AerialThe Conference Dinner is included in all full registrations.  Additional tickets for day delegates, exhibitors and guests can be purchased for $130.  Book during registration or by emailing the secretariat.  Dinner include 3 course meal and drinks.Aerial is centrally located in South Wharf on Melbourne’s city fringe at 17 Dukes Walk, Corner of Dukes and Rona Walk, South Wharf.  

Sunday 2nd April 2017

0830 Registration (don’t forget daylight savings ends – one hour back at 3am)
0830-0930 Committee Meeting | M14, Level 2
Plenary Session | CCH 2/3, Level 2
Chair: Rachel Fraser
0930-1030 elizabeth_algar_150Invited Speaker: Associate Professor Elizabeth Algar
Principal Scientist, Genetics and Molecular Pathology, Monash Health
Validation studies on a gene panel interrogating paediatric growth disorders and tumour predisposition
1030-1100 Morning Tea in the Exhibition CCH 1, Level 2
1100-1200 Business meeting | CCH 2/3, Level 2
1200-1300 Lunch in the Exhibition CCH 1, Level 2
Plenary Session | CCH 2/3, Level 2
Chair: Greg Peters
1300-1345 dom_150Invited Speaker: Dominic J. McMullan BSc FRCPath
Consultant Registered Clinical Scientist, West Midlands Regional Genetics Laboratories, Birmingham, United Kingdom
Exome sequencing of 406 parental/fetal trios with structural abnormalities revealed by ultrasound in the UK Prenatal Assessment of Genomes and Exomes (PAGE) project 
Closing Session | CCH 2/3, Level 2
Chair: Amanda Dixon-McIver
1345-1430 Presentation of Poster Prize and Closing

Posters should be A0 size (A0 size is 841mm x 1189mm) in portrait orientation.  Click here for hints on preparing your poster.  Posters will be displayed in the catering and exhibition area for the duration of the conference.  Authors can also supply digital versions for display on the conference website.

Poster # Title (click for abstract) PDF Attending Authors
01 Therapy-related myeloid leukaemia in patients treated for breast cancer Siobhan Battersby
02 Manual vs automated plasma cell (CD138+) enrichment: A validation study Racha El-hajj
03 Inverted duplicated deleted 8p: How microarray presents a prettier picture. PDF_100 Mahony Fenn
04 Targeted molecular testing for cancer therapy Mioara Gavrila
05 Undetectable levels of UNCONJUGATED ESTRIOL in maternal serum have led to a diagnosis of X-LINKED ICHTHYOSIS in a male fetus Dannielle Ghezzi
06 Phenotype risk assessment in a couple with multiple alpha and beta-globin variants. Wendy Hutchinson
07 Two cases of the rare but emerging syndrome associated with the recurrent “3q13.2q13.31 Microdeletion”. Sharanbeer Kaur
08 Detection of parental mosaicism following non-mosaic findings in their offspring on array Louise Korte
09 Limitation of molecular karyotyping: Discordance between molecular vs. conventional cytogenetics Shea Ming Lim
10 A very complex and rare cytogenetic finding of a patient with two balanced chromosomal rearrangements involving one chromosome 1, one chromosome 6 and one chromosome 4. Vanessa McLaughlin
(Poster Prize Candidate)
11 A family with a 22q11.2 distal deletion Holly Napret
12 Fusion of two transferred embryos following IVF delivers monochorionic diamniotic ‘chimeric’ twins with sex discordance. Jennifer Ong
13 What is lurking in the Karyotype? A review of aUPD in haematological malignancy. Rebecca Reid
14 Cystic fibrosis mutations and infertility – using Next Gen Sequencing to identify infertility related variants Melinda Richter
15 A deletion in CFTR causes double trouble Monica Runiewicz
(Poster Prize Candidate)
16 Alport syndrome testing – 18 months experience with NGS Louisa Sanchez
17 Molecular testing for imprinting disorders at Monash Health Priscillia Siswara
(Poster Prize Candidate)
18 Seeing the whole picture – integrated view of CNVs, AOH, and sequence variants for Improved results PDF_100 Soheil Shams
19 Diagnosing two syndromes with one test Ling Sun
(Poster Prize Candidate)
20 Maternal Y chromosome derived copy number variant causes false positive klinefelter syndrome (XXY) sex chromosome results during noninvasive prenatal testing Absera Tsegay
21 Familial alzheimers disease exclusion testing and an incidental finding: A PGD case. Andrea Twomey
22 Two rare pathogenic copy number gains on chromosome 10 Violeta Velkoska-Ivanova
23 Severe haemophilia A caused by a duplication in the factor VIII gene covering exons 7 to 9 Jeremy Wells
24 An unbalanced mosaic structural chromosome abnormality: A case study Helen Wilkin
25 Immunohistochemistry as a screening tool for FISH testing in the diagnosis of double hit lymphoma Emma-Li Yit, Emile Sansakda-Phillips

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