Poster Session
| Sunday, August 4, 2019 |
| 6:15 PM - 7:15 PM |
| Auditorium & Renouf Foyer (L1) |
Details
Posters presenters will be available at their poster during designated times at noted below. Includes platters & drinks.
1815-1845 – Odd numbered posters
1845-1915 – Even numbered posters
Speaker
Dr Lauren Akesson
Clinical Genetics Fellow
Victorian Clinical Genetics Services
P1. Rapid mRNA splicing analysis confirming pathogenicity of a novel homozygous ASNS variant in a newborn
Dr Lauren Akesson
Clinical Genetics Fellow
Victorian Clinical Genetics Services
P2. pRapid mitochondrial genome (mtDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care
Dr Lauren Akesson
Clinical Genetics Fellow
Victorian Clinical Genetics Services
P3. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) caused by a homozygous intragenic AIRE deletion detected by chromosomal microarray
Dr Lilian Downie
Clinical Geneticist
MCRI
P4. Childhood Hearing Australasian Medical Professionals (CHAMP) network: consensus guidelines recommendations on aetiological investigation and clinical medical management of childhood hearing loss in Australia
Dr Matthew Edwards
Staff Specialist
Hunter Genetics
P5. Clinical report: one year of high dose treatment of Proteus syndrome with miransertib (ARQ 092)
Dr Carey-Anne Evans
Neuroscience Research Australia (NeuRA)
P6. Evaluation of a Clinical Genomics Course: Considerations for Australia and Internationally.
Dr Andrew Fennell
Clinical Geneticist
Monash Health
P7. The changing face of clinical genetics service delivery in the era of genomics
Dr Tegan French
Clinical Genetics Fellow
Victorian Clinical Genetics Service
P8. Rapid exome sequencing of DNA from multiple tissues identifies KRAS mosaicism in Oculoectodermal syndrome
Dr Shuxiang Goh
Clinical Geneticist staff specialist
University of NSW
P9. JARID2 deletions may be associated with a clinically recognisable intellectual disability syndrome.
Dr Bernadette Hanna
Clinical Geneticist
Westmead Hospital
P10. Creating a bi-national Clinical Genetics lecture series: its successes and challenges
Dr Bernadette Hanna
Clinical Geneticist
Westmead Hospital
P11. Ultra-rapid genomic sequencing in the neonatal intensive care: Expanding the TK2-phenotype and informing clinical decision
Dr Megan Higgins
Clinical Genetics Registrar
Genetic Health Queensland
P12. A comprehensive audit of Lynch Syndrome genetic testing in Queensland and review of the literature
Dr Cathy Kiraly-Borri
Genetics Services of Western Australia
P13. Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum
Dr Anna Le Fevre
Clinical Geneticist / PhD candidate
VCGS/ WEHI
P14. WIDENING ACCESS TO GENOMIC TESTING, A PHYSICIAN SURVEY FROM THE WEST OF ENGLAND
Dr Suzanna Lindsey-Temple
Clinical Geneticist
Liverpool Hospital
P15. Smith-Lemli-Opitz Syndrome – atypical phenotype.
Dr Zoe McCallum
Royal Children's Hospital
P16. Game of Genomes: the Exomes are coming....What do Paediatricians need to know?
Dr Matthew Regan
Fellow
Monash Health
P17. ADDITIONAL ACRONYMS for GENETICS
Dr Chris Richmond
Clinical Geneticist
Genetic Health QLD
P18. Rapid neonatal diagnosis of biallelic SPTB mutation causing severe haemolytic anaemia with liver failure
Dr Chloe Cunningham
Clinical Geneticist
Victorian Clinical Genetics Service
P20. Genetic analysis of polymicrogyria in cohort of 124 patients using a deep sequencing gene panel.
Dr Mathew Wallis
Clinical Geneticist
Tasmanian Clinical Genetics Service
P21. Closing a gap for adults with rare and undiagnosed conditions: the Austin Health Adult Undiagnosed Diseases Program (AHA-UDP)
Dr Mathilda Wilding
Cancer Geneticist
Familial Cancer Service Royal North Shore Hospital Sydney
P22. Preliminary outcomes of breast screening with MRI, MMG and ultrasound in young women with NF1
Emma Tudini
Project Co-ordinator
Australian Genomics
P23. Implementing Gene Curation for Hereditary Cancer Susceptibility in Australia: Achieving Consensus on Genes with Clinical Utility
Emma Tudini
Project Co-ordinator
Australian Genomics
P24. Design and Implementation of Shariant: A Platform to Share Clinically Curated Variants across Australia
Ms Monica Armstrong
Principal Scientist, Department of Diagnostic Genomics
Canberra Hospital Health Services
P25. Comprehensive FISH testing to screen for secondary abnormalities in Mantle Cell Lymphoma: A retrospective study.
Mr Andrew Beddow
Head of Prenatal Section
Wellington Regional Genetics Laboratory
P26. Prenatal Diagnosis at WRGL – Audit of results and a review of testing strategy
Mrs Amber Burgess
Senior Medical Scientist Cytogenetics
Victorian Clinical Genetics Services
P27. The elusive Spinal Muscular Atrophy (SMA) diagnosis: Homozygous sequence variants.
Prof. Leslie Burnett
Conjoint Professor and Visiting Scientist
Garvan Institute of Medical Research, and Virtus Diagnostics
P28. Virtual gene panel analysis has diagnostic yield approaching that of whole genome analysis
Mrs Josephine Campbell
Scientist
QML Pathology
P30. THE MOLECULAR AND CYTOGENETIC DIAGNOSIS OF A 46,XX SRY-NEGATIVE MALE.
Ms Melissa Chow
Medical Scientist
VCGS
P31. Evolution of the VCGS CF testing service: lessons learnt
Ms Kerith-Rae Dias
Neuroscience Research Australia
P32. IDdb: a database of intellectual disability genes
Dr Kylie Drake
Scientific Officer
Canterbury Health Laboratories
P33. Detecting low level mosaicism in parents of children with apparently de novo variants using ddPCR
Dr Kylie Drake
Scientific Officer
Canterbury Health Laboratories
P34. Customised variant testing: a New Zealand-wide variant-specific model for genetic testing
Dr Paul Dunn
Assistant Professor
Bond University
P35. Whole Exome Sequencing Identifies New Candidate Mutations in CADASIL and Related Stroke and Dementia Disorders
Mr Peter Field
Molecular Genetics Supervisor
Virtus Diagnostics - Genetics
P36. Preconception genetic carrier screening in an Australian fertility clinic, the first 1000 patients
Miss Jeshyloria Flores
BMLSc Student
Canterbury Health Laboratories
P37. Development of a FRGX methylation test: Methylation assessment of Fragile-X patients by High Resolution Melting Analysis
Miss Ashleigh Fodeades
NSW Health Pathology
P38. Detection of an IKZF1Plus paediatric B-ALL and the impact on clinical management: A case study
Mrs Elizabeth Farnsworth
Senior Hospital Scientist
Children's Hospital at Westmead
P39. A novel ATM deletion in a 2-year-old female with variant ataxia-telangiectasia
Ms Katherine Holman
Senior Hospital Scientist
Sydney Genome Diagnostics, Western Sydney Genetics Program
P40. Re-analysis of massively parallel sequencing (MPS) data for aortopathy and Ehlers-Danlos syndrome (EDS) panels.
Ms Kim Huynh
Hospital Scientist
Children's Hospital Westmead
P41. Phenotypic child with two supernumerary marker chromosome 15s without SNRPN, UBE3A, OCA2 or HERC2 involvement
Mr Nicholas Koulouris
Hospital Scientist
NSW Health Pathology
P42. High Density SNP arrays – Reporting very small CNVs
Ms Tina Lillis
Senior Cytogeneticist
Wellington Regional Genetics Laboratory
P44. A duplication of 19q13.12-q13.32 in a female neonate with dysmorphism and cleft palate
Dr Neven Maksemous
Queensland University of Technology
P45. Improving the efficiency and efficacy of molecular genetics diagnostics for hereditary Ataxia
Miss Alisha Monaco
Medical Scientist
Victorian Clinical Genetics Services
P46. Benefits and challenges of the new MBS item numbers for cystic fibrosis gene testing.
Ms Thuy (Kim) Nguyen
Hospital Scientist
Children's Hospital Westmead
P47. A case report of familial complex chromosomal rearrangement and the essential genetic testing involved.
Mr Royston Ong
Phd Candidate
Harry Perkins Institute of Medical Research - UWA
P48. Preliminary results of an expanded preconception carrier screening pilot study in Western Australia
Dr Dean Phelan
Victorian Clinical Genetics Services
P50. To Check, or Not To Check, That is the Question
Mrs Emmie Pushkareff
Scientist
QML Pathology
P51. THE IMPORTANCE OF COMPREHENSIVE WORKUP IN A PRENATAL SETTING.
Miss Hannah Reid
Medical Laboratory Scientist
Canterbury Health Laboratories
P52. Single-colour ddPCR for the analysis of copy number variants: rapid, economical and variant-specific.
Ms Heather Renton
Chief Executive Officer
Syndromes Without a Name (SWAN) Australia
P53. Peer Support Groups play an important role in “Social Precision Medicine”.
Mrs Samantha Robinson
Hospital Scientist
Children's Hospital Westmead
P54. Maternal uniparental disomy (UPD) of chromosome 20: presentation of two new cases
Dr Ain Roesley
Peter Maccallum Cancer Centre
P55. Overcoming the bottleneck in cancer Next-Generation Sequencing with curation training
Dr Samantha Sundercombe
Genetic Pathology Trainee
Douglass Hanly Moir
P56. Hereditary Fructose Intolerance (HFI) diagnosis - ALDOB deletion detected using Multiplex Ligation-Dependent Probe Amplification
Ms Jane Watt
Microarray Lead Scientific Officer
Canterbury Health Laboratories
P57. The application of droplet digital PCR to confirm an intragenic CDKL5 deletion detected by microarray
Mr Dale Wright
Cytogenetics Head
The Children's Hospital at Westmead
P58. Single Nucleotide Polymorphism (SNP) microarray for genome ploidy and gene copy number alterations in paediatric acute lymphoblastic leukaemia (pALL).
Mr Shravan Yellenki
Medical Scientist
Peter MacCallum Cancer Centre
P59. De novo vs relapsed vs transformed lymphoma – assessing clonal relationship using high-throughput sequencing
Mrs Farida Zabih
Hospital Scientist
N/A
P60. Diagnostic utility of CGH/SNP microarray for detection of clinically important chromosome abnormalities in brain tumours.
Mansour Zamanpoor
Diagnostic Genetic Scientist
Wellington Regional Genetics Laboratory
P61. NGS implementation- the experience of a small laboratory
Dr Todor Arsov
Genetic Counsellor
Australian National University
P62. THE VALUE OF WES DATA RE-ANALYSIS: DE NOVO CAMK2B VARIANT CAUSING DEVELOPMENTAL DELAY
Dr Todor Arsov
Genetic Counsellor
Australian National University
P63. MAFFUCCI SYNDROME: RARE AND NON-INHERITED CANCER PREDISPOSITION SYNDROME
A/Prof Kristine Barlow-Stewart
Honorary Academic
University of Sydney
P64. Genetic discrimination concerns in travel insurance - the pre-existing medical condition rule
Ms Jennifer Berkman
Genetic Counsellor
University of Queensland
P65. Decision-making in predictive testing for neurodegenerative conditions: the Queensland experience
Mrs Subhashini Crerar
Genetic Counsellor
Genetic Health Service New Zealand
P66. Evaluation of advantages and challenges of panel testing in cancer genetics: A UK case report
Ms Ashley Crook
Senior Genetic Counsellor and PhD Candidate
University of Technology Sydney/ RNSH
P67. Familial MND and FTD: Identifying the need for a new genetic counselling model of care
Ms Tenielle Davis
Genetic Counsellor
Royal Women’s Hospital
P69. Interesting case study: Termination of pregnancy for Autism risk
Mrs Lyndal Douglas
Genetic Counsellor
Children's Hospital Westmead
P70. Predictive testing in minors and non-disclosure, should testing be offered?
Ms Samantha Edwards
Genetic Counsellor
Harry Perkins Institute of Medical Research - UWA
P71. Pilot study of expanded preconception carrier screening in Western Australia – Health professional training and perspectives
Ms Samantha Edwards
Genetic Counsellor
Harry Perkins Institute of Medical Research - UWA
P72. Pilot study of expanded preconception carrier screening in Western Australia – Lessons Learned
Ms Lisa Gordon
Genetic Counsellor
Royal Melbourne Hospital
P73. "Bridging the Gap"-The value of Supervision in the Genetic Counselling Private Sector
Ms Lucie Hallenstein
Genetic Counsellor
Mid North Coast Cancer Institute
P74. The Ins and Outs of a regional Cancer Genetics Service; review of referral handling and triage processes
Mrs Katrina Harrison
Genetic Counsellor
Tasmanian Clinical Genetics Service
P75. The VUS odyssey in the Genetic Counselling setting.
Ms Joanne Isbister
Genetic Counsellor
Royal Melbourne Hospital
P76. REVIEW OF ETHNIC INEQUALITIES IN THE UPTAKE OF NON-INVASIVE PRENATAL TESTING (NIPT) IN DEVELOPED COUNTRIES.
Dr Chris Jacobs
Senior Lecturer, Genetic Counselling
University of Technology Sydney
P77. Making it real: students’ experiences of simulation in the first week of genetic counselling education
Ms Anna Jarmolowicz
Associate Genetic Counsellor
Peter Maccallum Cancer Centre
P78. One size doesn’t fit all. Genetic counselor reflections of implementing genomic sequencing
Ms Anaita Kanga-Parabia
PhD student and Associate Genetic Counsellor
University of Melbourne and Victorian Clinical Genetics Services
P79. Experiences of women and their partners receiving variants of uncertain significance through prenatal chromosomal microarray
Ms Jiin Ying Lim
Genetic Counsellor
KK Women's and Children's Hospital
P80. Rapid Clinical Exome Sequencing In The Paediatric Intensive Care Unit: Challenges To Genetic Counselling
Ms Ellenore Martin
Associate Genetic Counsellor
NSW Health
P81. GC Chat, A Genetic Counselling Podcast: Reflections After Season 1
Professor Alison McEwen
Professor
University of Technology Sydney
P82. Imagining and designing the future of genetic counselling with the new generation of genetic counsellors
Ms Katrina Monohan
Genetic Counsellor
Peter MacCallum Cancer Centre
P84. Outcomes from a trial of the Genetic Psychosocial Risk Instrument in an Australian genetics service
Ms Cassandra Nichols
Assoc. Genetic Counsellor
Genetic Health WA
P85. Uptake of germline genetic testing in patients with ovarian cancer in WA
Ms Ellen Pieper
Associate Genetic Counsellor
Royal Melbourne Hospital
P86. A professional development tool based on the “Guidelines for Training and Certification in Genetic Counselling 2016.”
Mr Joshua Schultz
Lecturer in Genomics and Professional Practice
Master of Genetic Counselling, University of Melbourne
P87. Implementation of a dedicated Ocular Genetics Clinic: A clinical audit
Yana Smagarinsky
Genetic Counsellor
Victorian Clinical Genetics Services
P88. Evidence, education and encouragement - Implementation of a laboratory-based genetic counsellor
Ms Catherine Speechly
Associate Genetic Counsellor
Prince of Wales Hospital, Hereditary Cancer Centre
P89. Genetic counsellor, patient and carers’ views on the NSW/ACT clinical genetics service information system
Dr Jane Tiller
Ethical, Legal & Social Adviser
Public Health Genomics, Monash University
P90. Achieving a moratorium on the use of genetic test results in insurance in Australia
Miss Kathryn Visser
Associate Genetic Counsellor
Monash Health
P91. Where’s Wally? Genetic counselling and identifying new cases in families with Fabry disease
Miss Kathryn Visser
Associate Genetic Counsellor
Monash Health
P92. Breaking tradition: Delivering a national NIPT genetic counselling service via telephone
A/Prof Kathy Wu
Head of Department
St Vincent's Hospital Sydney
P93. Pharmacogenomics as an element of precision healthcare: The St Vincent’s experience
Mr Troy Dalkeith
Clinical Nurse Consultant
Sydney Children's Hospitals Network
P95. ‘Classical’ Maple Syrup Urine Disease (MSUD), lifespan leucine levels and natural protein tolerance.
Mr Mark De Hora
Clinical Scientist
Labplus
P96. Steroid Profiling by LCMSMS Improves Screening for Congenital Adrenal Hyperplasia in New Zealand
Mrs Anne-Marie Desai
Metabolic Dietitian
Royal Melbourne Hospital
P97. Findings of a 12 month audit of adult patients with Phenylketonuria
Dr Noha Elserafy
Clinical Geneticist
Nepean Hospital
P98. Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia
Ms Basia Hiley
Hospital Scientist
NSW Newborn Screening Programme
P99. A case of an unusual pathway for diagnosis of CAH
Ms Anita Inwood
Nurse Practitioner/service Director
Queensland Lifespan Metabolic Medicine Service
P100. An infant presenting clinically with CPTII deficiency which was missed by standard newborn screening
Ms Catherine Manolikos
Snr Dietitian
Royal Perth Hospital
P102. Impact of MDDA Retreat on short-term phe levels of a sub-group of adult PKU patients
Ms Kirsty Mclaughlin
Medical Scientist
Pathwest Laboratory Medicine WA
P103. Newborn screening for GA1 by underivatised MSMS: Improved sensitivity and specificity using LCMSMS.
Dr Tahlee Minto
Fellow
Royal Children's Hospital
P104. A neonate with an acute presentation of glutaric aciduria type II with maternal liver disease
Mrs Jordyn Moore
Scientific Officer
Canterbury Health Laboratories
P105. Time-Of-Flight Mass Spectrometry analysis of Transferrin for screening N-linked Congenital Disorders of Glycosylation
Mrs Jordyn Moore
Scientific Officer
Canterbury Health Laboratories
P106. Time-Of-Flight Mass Spectrometry analysis of Apolipoprotein CIII for screening O-linked Congenital Disorders of Glycosylation
Ms Ciara Paramore
Paediatric Dietitian
Sydney Children's Hospital Network
P107. BH4 Responsiveness Testing: Practical Pitfalls
Ms Sally Smith
Nurse Practitioner Candidate
Queensland Lifespan Metabolic Medicine Service
P109. Two children with organic acidurias and a fish-like odour treated with riboflavin
A/Prof Adviye Ayper Tolun
PSO/HoD
The Children's Hospital at Westmead, SCHN
P110. Carnitine palmitoyltransferase deficiency - a difficult disorder for newborn screening
A/Prof Veronica Wiley
Principal Scientist
NSW Newborn Screening Programme, The Sydney Children's Hospital Network
P111. Changing incidence of disorders included in routine bloodspot screening in NSW
Mrs Clare Williams
Metabolic Dietitian
Queensland Lifespan Metabolic Medicine Service
P112. PKU service benchmarking following implementation of the Australasian consensus guidelines: a single site audit
Miss Kezia Bates
Associate Genetic Counsellor / ANU Medical Student
ACT Health
P113. Impact of population screening on Australian Genetic Services
A/Prof Stephanie Best
Senior Research Lead
Murdoch Children's Research Institute
P114. Multi-site investigation of rapid genomic testing in acutely unwell children in Australia: learning from implementation
Joep de Ligt
Science Leader Bioinformatics
ESR
P116. A Living Biobank of Breast Cancer Organoids Captures Disease Heterogeneity
Dr Guillem De Valles-Ibáñez
University of Otago
P117. The epileptology of GNB5 encephalopathy
Dr Kylie Drake
Scientific Officer
Canterbury Health Laboratories
P118. Solving the phenotype-genotype dilemma: HBA MLPA reveals novel deletions in two families.
Dr Geraldine Duncan
Medical Laboratory Scientist
Canterbury Health Laboratories
P119. GeneXpert Ultra for quantitative BCR-ABL1 testing – thinking outside the (black) box.
Dr Miriam Fanjul-Fernandez
Lead Translational Scientist
Victorian Clinical Genetic Services (VCGS)
P120. DATA PROVENANCE CHECK: A COST-EFFECTIVE SOLUTION TO PREVENT INCORRECT DIAGNOSES
Ms Monica Ferrie
CEO
Genetic Support Network of Victoria
P121. Pilot Study: Exploring the role of genetic and community support services in supporting mental health
Dr Kevin Carpenter
Retired
P122. LAB TESTS ONLINE AUSTRALIA - A KEY PARTNER IN INCREASING GENETIC TEST LITERACY
A/Prof Laura Forrest
Senior Research Fellow & Assoc. Genetic Counsellor
Peter MacCallum Cancer Centre
P123. Telling families unexpectedly about clinically actionable genetic information: Examining the psychosocial implications and clinical outcomes
A/Prof Ronda Greaves
Deputy Head of Biochemical Genetics, VCGS
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
P125. Establishment of an Asia-Pacific Dried Blood Spot External Quality Assurance Program.
Ms Norah Grewal
Research Associate in Law and Ethics
The University of Sydney
P126. Consent as a ‘cure-all’? The role of consent in genetic data sharing and secondary use
Ms Chloe Hanna
Dsd Clinical Coordinator
Royal Children's Hospital
P127. Use of a diagnostic DSD gene panel and implications for clinical care.
A/Prof Jan Hodgson
Program Director
Department of Paediatrics, University of Melbourne
P130. Development of a framework to include Indigenous Australians in training pathways for Genetic Counsellors.
Ms Romy Kerr
Associate Genetic Counsellor
Genetic Health Service New Zealand
P132. Auckland-Based Oncologists Perspectives on Genomics and Genomic Education Needs
Dr Evelyn Lee
Research Fellow
GenIMPACT, Macquarie University
P133. An economic-modelling framework to assess the impact of population-wide preconception carrier screening for genetic disease
Dr Miranda Vidgen
Data Governance & Policy Officer
Australian Genomics
P134. Survey of public opinions about sharing genomic data from medical records with researchers
Ms Tiffany MacIntosh
Parkville Familial Cancer Centre
P135. FROM THEORY TO PRACTICE: The evolution of mainstream genetic testing for patients with breast cancer.
Dr Fran Maher
Education Officer
Melbourne Genomics Health Alliance
P136. Genomics in clinical care: Preparing non-genetic health professionals
Ms Julia Mansour
Genetic Counsellor
P137. "Balanced translocation" or not? A prenatal case of lymphedema distichiasis syndrome.
A/Prof Aideen McInerney-Leo
Research Leader
University of Queensland
P138. Genomic Confidence and Somatic Testing Ordering in Queensland Cancer Physicians
Mrs Rachael Mehrtens
Scientist
Pathology Queensland
P139. Collaboration: A NGS Panel Benchmarking Study of Public, Private & Research Laboratories within Queensland, Australia
Dr Joseph Egwuenu
Snr. Medical Science Liaison
Takeda Australia
P140. Classification of genetic variants in patients with Fabry disease enrolled in the Fabry Outcome Survey (FOS)
Dr Shuji Mizumoto
Associate Professor
Meijo University
P141. Biallelic loss-of-function mutations in CSGALNACT1 cause a skeletal dysplasia with advanced bone age
Ms Victoria Warn
Project Officer
Genetic Alliance Australia
P142. Genomic Identity and Family Challenges: A Case Study from a Changed Diagnosis after 20 years
Dr Joseph Egwuenu
Snr. Medical Science Liaison
Takeda Australia
P143. Gaucher disease (GD)-specific Patient-Reported Outcome (PRO) measures for clinical monitoring and for clinical trials
Amanda Samanek
Executive Director
Genetic and Rare Disease Network
P145. Rare health professionals.
Dr Jacqueline Savard
Senior Lecturer in Health Ethics and Professionalism
Deakin University
P146. Summer internship for Indigenous peoples in Genomics (SING) Australia: Developing Indigenous genomics leadership
Ms Cassandra Choy
Study Corodinator
Murdoch Children's Research Institute
P147. Life at the Coalface: a clinical trial coordinator's perspective.
Mr Ryan Sheridan
Student
University of Melbourne
P148. Clinical Audit of Cancer Gene Panel Testing at The Royal Melbourne Hospital
Dr Natalie Thorne
Lead, Genomics Information Management
Melbourne Genomics Health Alliance
P150. Variant interpretation training for the genomics era: a 5-year comprehensive strategy aiming towards professional competencies
Ms Lan Trieu
Medical Scientist
Victorian Clinical Genetics Services
P151. Victorian Newborn Screening Expanded CFTR Mutation Panel (2007-2018)
Dr Ma-Am Joy Tumulak
Institute of Human Genetics, NIH, University of the Philippines Manila
P152. Psychosocial Issues of Filipino Parents with a Child with Maple Syrup Urine Disease
Ms Erin Tutty
Research Assistant & Mgc Student
Peter MacCallum Cancer Centre
P153. “It’s not a loss for nothing”: The experiences of the CASCADE rapid autopsy program team
Ms Eloise Uebergang
Master of Genomics and Health Student
University of Melbourne
P154. Helping culturally diverse populations understand genomics: Development and evaluation of a plain language resource.
Miss Emily Vasiljevski
PhD Candidate
Kids Research, The Children's Hospital at Westmead
P155. Treating Muscle Weakness and Fatigue in Neurofibromatosis Type 1
Dr Kunal Verma
Clinical Geneticist
Monash Health & Alfred Health
P156. ACTA2 mutations and non-syndromic thoracic aortic aneurysms/dissections (TAAD)
Dr Daniele Belluoccio
Senior Field Applications Scientist
Agilent Technologies Australia Pty Ltd
P157. Sample quality control assessment of long read sequencing and low input libraries
Dr Daniele Belluoccio
Senior Field Applications Scientist
Agilent Technologies Australia Pty Ltd
P158. Sample QC with the Cell-free DNA ScreenTape assay
Dr Daniele Belluoccio
Senior Field Applications Scientist
Agilent Technologies Australia Pty Ltd
P159. Quality Control of DNA and RNA Samples Using the 4150 TapeStation System
Dr Elvira Zilliacus
Genetic Services Consultant
Blueprint Genetics
P160. Improved Clinical Utility of Next Generation Sequencing Panel Testing in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Dr Elvira Zilliacus
Genetic Services Consultant
Blueprint Genetics
P161. Improved diagnostic yield through optimised mapping quality and coverage of the PKD1 gene in ADPKD
Dr Elvira Zilliacus
Genetic Services Consultant
Blueprint Genetics
P162. Sequencing of RPGR-ORF15 leads to increased diagnostic yield in patients with inherited retinal dystrophies
