A5015335878- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- Lung Cancer Treatments and Mutations
- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Sarcoma Diagnosis and Treatment
- Lung Cancer Research Studies
- Ethics and Legal Issues in Pediatric Healthcare
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Congenital Heart Disease Studies
- Tumors and Oncological Cases
- Cancer-related gene regulation
- Genomics and Rare Diseases
- Urologic and reproductive health conditions
- Epigenetics and DNA Methylation
- Colorectal Cancer Treatments and Studies
- Hemophilia Treatment and Research
- Hemoglobinopathies and Related Disorders
- Neonatal Health and Biochemistry
- Acute Lymphoblastic Leukemia research
- Cardiomyopathy and Myosin Studies
- Genetic Syndromes and Imprinting
- Soft tissue tumor case studies
Sullivan Nicolaides Pathology
2013-2024
Mater Health Services
2014-2024
Mater Adult Hospital
2022
Mater Misericordiae Hospital
2022
Mercy Hospital for Women
2021
Royal Children's Hospital
2021
Victorian Clinical Genetics Services
2021
Universidade de São Paulo
2021
Northern Hospital
2021
Monash University
2021
Abstract Background: Azathioprine and 6‐mercaptopurine (6‐MP) are well established for the treatment of inflammatory bowel disease (IBD). Assessing thiopurine methyltransferase (TPMT) status has been recommended to reduce risk serious toxicity. Measuring red blood cell (RBC) 6‐thioguanine nucleotide (6‐TGN) concentrations dose adjustment. Aim: To describe results measuring TPMT activity genotype, 6‐TGN concentration in New Zealand. Methods: Canterbury Health Laboratories provided these...
We present a patient with behavioral disorder, epilepsy, and autism spectrum disorder who has 520 kb chromosomal deletion at 15q26.1 encompassing three genes: ST8SIA2 , C15orf32 FAM174B . Alpha‐2,8‐Sialyltransferase 2 (ST8SIA2) is expressed in the developing brain appears to play an important role neuronal migration, axon guidance synaptic plasticity. It recently been implicated genome wide association study as potential factor underlying autism, also pathogenesis of bipolar schizophrenia....
Microcystic stromal tumor (MST) is a rare of presumed sex-cord differentiation. We present case MST arising within patient with constitutional 5q deletion syndrome, whose encompassed the APC gene. Genomic analysis revealed point mutation in remaining allele, predicted to result abnormal splicing Exon 7. Subsequent clinical investigation multiple gastrointestinal polyps qualifying for diagnosis familial adenomatous polyposis. This emphasizes importance an aberrant Wnt/β-catenin pathway...
Non-invasive prenatal testing (NIPT), also known as cell-free DNA and non-invasive screening (NIPS), is an important addition to the range of tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT superior other modalities. However, has limitations complexities that requesting clinicians their patients should understand.This review article will briefly describe technical basis assays compare performance characteristics with existing tests. The clinical use be...
ABSTRACT Objectives To perform individual record linkage of women undergoing screening with cell‐free DNA (cfDNA), combined first‐trimester (CFTS), second‐trimester serum (STSS), and/or prenatal and postnatal cytogenetic testing the aim to (1) obtain population‐based estimates utilization invasive diagnosis, (2) analyze performance different strategies, (3) report residual risk any major chromosomal abnormality following a low‐risk aneuploidy result. Methods This was retrospective study...
Osimertinib is a third-generation EGFR (epidermal growth factor receptor) tyrosine kinase inhibitor that effective in non-small cell lung cancer (NSCLC) harbouring the T790M mutation. The Idylla Mutation Test rapid cartridge-based method for detecting and other mutations. However, false negative results have been reported, sensitivity of assay this mutation uncertain.Eighty NSCLC samples were tested by both next-generation sequencing (NGS) assay; 46 from patients at disease progression, 24...
Death in the fetal, perinatal, and early infant age-group has a multitude of causes, proportion which is presumed to be genetic. Defining specific genetic aberration leading death problematic at this young age, due limited phenotype-genotype correlation inherent underdeveloped phenotype, inability assess certain phenotypic traits after death, problems dealing with rare disorders. In study, our aim was increase yield identification defined cause an death. Therefore, we employed whole genome...
What is the frequency of major chromosome abnormalities in a population-based diagnostic data set genomic tests performed on miscarriage, fetal and infant samples state with >73 000 annual births?The overall entire cohort was 28.2% (2493/8826), significant decrease detection later developmental stage, from 50.9% to 21.3% 15.6% prenatal postnatal cohorts, respectively.Over past decade, technological advances have revolutionized testing at every stage reproduction. Chromosomal microarrays...
supplying equipment (Behring Nephelometer II) and reagents for nephelometric measurement of urinary albumin.We also thank J.
Amplification of the murine double minute-2 (MDM2) gene, which is usually detected with fluorescence in-situ hybridisation (FISH), key driving event for atypical lipomatous tumours (ALTs)/well-differentiated liposarcomas (WDLs). We sought to determine concordance between histopathological findings and MDM2 FISH in diagnosis ALT/WDL, identify histological features MDM2-amplified lacking classic atypia.We performed a retrospective analysis all mature lesions subjected at our institution. was...
The porphyrias are a group of inborn or acquired disorders haem synthesis that can result in neurovisceral dermatological symptoms. Diagnosis is usually made using combination clinical presentation and biochemical parameters. This case report describes 25-year-old woman clinically presenting with rash then found to have elevated porphobilinogen concentrations her urine. initial presumptive diagnosis variegate porphyria was not supported by analysis plasma, urine faeces, which suggested acute...
To carry out a nationwide study of KRAS testing in metastatic colorectal cancer as reported by nine major molecular pathology service providers Australia, including mutation frequencies and turnaround times that might impact on patient care.Participating laboratories contributed information frequencies, the G13D type, well for tumor block retrieval testing.The frequency observed different test sites total 3688 cancers ranged from 34.4% to 40.7%, with an average across all 38.8%. The type...