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Seeing the whole picture – integrated view of CNVs, AOH, and sequence variants for Improved results

Ben Thiessen — Thu, 02 Mar 2017 02:27:29 +0000

Alessio Venier1, Andrea O’Hara1, Soheil Shams1 1 BioDiscovery, Inc. 715 North Douglas Street, El Segundo, CA, 90245 Given the separate technologies used to detect CNVs, AOH, and Sequence Variants (SNP Microarrays for CNVs and AOH, and NGS for Sequence Variants), this...

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Limitation of molecular karyotyping: Discordance between molecular vs. conventional cytogenetics

Ben Thiessen — Mon, 20 Feb 2017 02:55:56 +0000

Shea Ming Lim, Toni Saville, Pauline Dalzell, Christopher Lucas, Joan Junio, Krystle Standen, Genevieve Temple, Louise Carey 1Molecular and Cytogenetics Unit, SEALS Pathology, Prince of Wales Hospital, Randwick Introduction: Most laboratories are moving towards molecular based cytogenetics such as QF-PCR,...

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Therapy-related Myeloid Leukaemia in Patients Treated for Breast Cancer

Ben Thiessen — Wed, 15 Feb 2017 02:27:59 +0000

Siobhan Battersby, Praveen Sharma, Dorothy Hung, Luke St Heaps, Dale Wright Sydney Genome Diagnostics, Children’s Hospital at Westmead, NSW, Australia Background: The recurrent t(8;21) abnormality found in primary acute myeloid leukaemia (AML) is associated with a favourable prognosis. In therapy-related...

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Manual vs Automated Plasma Cell (CD138+) Enrichment: A Validation Study.

Ben Thiessen — Wed, 15 Feb 2017 02:26:47 +0000

El-Hajj Racha, St. Heaps Luke, Clark Alissa and Wright Dale. Sydney Genome Diagnostics, Cytogenetic Department, The Children’s Hospital at Westmead, NSW, Australia. Background Multiple myeloma (MM) is a plasma cell (PC) neoplasm in which the surface antigen CD138 (syndecan-1) is highly...

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Inverted duplicated deleted 8p: How Microarray presents a prettier picture.

Ben Thiessen — Wed, 15 Feb 2017 02:25:40 +0000

Mahony Fenn1, Ryan Hedley1, Dr. Melody Caramins2, Dr. Nicole Chia3 1 Western Diagnostic Pathology, 74 McCoy St, Myaree, WA, 6154, Mahony.Fenn@wdp.com.au 2 Genomic Diagnostics, 60 Waterloo Road, Macquarie Park, NSW, 2113 3 Queensland Medical Laboraory, Metroplex on Gateway, 11 Riverview...

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Targeted Molecular Testing for Cancer Therapy

Ben Thiessen — Wed, 15 Feb 2017 02:23:29 +0000

Shravan K Yellenki, Mioara Gavrila, Elizabeth M Algar Genetics and Molecular Pathology, Monash Health, 246 Clayton Rd, Clayton, VICTORIA 1 in 3 Australian men and 1 in 4 Australian women will be diagnosed with cancer before the age of 75....

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Undetectable levels of UNCONJUGATED ESTRIOL in maternal serum have led to a diagnosis of X-LINKED ICHTHYOSIS in a male fetus.

Ben Thiessen — Wed, 15 Feb 2017 02:22:43 +0000

Dannielle Ghezzi1, Khoa Lam1, Wendy Waters2, Sarah Smith2, Enzo Ranieri1, Dr Michael Metz1, Dr Janice Fletcher1, Peter Sharp3 1 Antenatal Screening Laboratory , Department of Biochemical Genetics, Directorate of Genetics & Molecular Pathology, SA Pathology, Women’s and Children’s Hospital,...

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Phenotype Risk Assessment in a couple with Multiple Alpha and Beta-Globin Variants.

Ben Thiessen — Wed, 15 Feb 2017 02:20:36 +0000

Wendy M Hutchison1, Kerryn M Weekes1, Jeremy N Wells1, Ruoxin Li1, Nicholas Clark1, Anita Feigin2,3, Asif Alam1, Elizabeth Algar4, Zane Kaplan2 1 Thalassaemia & Haemophilia Molecular Reference Laboratory, Level 3 Monash Medical Centre 246 Clayton Road, CLAYTON, VIC, 3168, wendy.hutchison@monashhealth.org...

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Two Cases of the Rare but Emerging Syndrome Associated with the Recurrent “3q13.2q13.31 Microdeletion”.

Ben Thiessen — Wed, 15 Feb 2017 02:18:35 +0000

Sharanbeer Kaur, Gregory Peters, Dale Wright Sydney Genome Diagnostics, The Children’s Hospital Westmead, NSW, 2145 Introduction: The recurrent 3q13.2q31.31 microdeletion has been associated with a rare but emerging syndrome with clinical features overlapping Primrose syndrome. Herein, two cases are...

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Detection of parental mosaicism following non-mosaic findings in their offspring on array

Ben Thiessen — Wed, 15 Feb 2017 02:17:28 +0000

Louise Korte1, Sarah Higgins1, Jillian Nicholl1, Alison Attwood1, Ryan Storer1, Sarah Smith1, Yvonne Hull1, Sue Brown1, Rhonda Hutchinson1, Christopher Barnett2, Jan Liebelt2 1SA Pathology, Cytogenetics Unit, Department of Genetic Medicine, WCH, 72 King William Road, North Adelaide, SA, 5006 2SA...

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