When evaluating a patient with abnormal liver functions, it is important to investigate the potential genetic causesGenetic testing for childhood liver disorders
GENETIC TESTING FOR CHILDHOOD LIVER DISORDERS
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GENETIC TESTING FOR HEREDITARY BREAST AND OVARIAN CANCER
The majority of breast and ovarian cancers are sporadic; however, approximately 5-10% of breast cancers and 10-15% of ovarian cancers are hereditary and passed down through generations.Genetic testing for hereditary breast and ovarian cancer
Centogene International Referral Service
Your doctor/genetic counsellor has ordered a Centogene genetic test for you or your child through Pathcare. Centogene laboratory, based in Germany, will be performing your testing and PathCare is here to coordinate the processCentogene International Referral
Invitae International Referral Service
Your doctor/genetic counsellor has ordered an Invitae genetic test for you or your child through PathCare. Invitae laboratory, based in the USA, will be performing your testing and PathCare is here to co-ordinate the process.Invitae International Referral Service
Diagnosis of Prosthetic Joint Infections (PJI)
Serum-biomarkers of infection such as CRP and ESR and synovial fluid leucocyte count and neutrophil percentage are useful tests to support the diagnosis of PJI. However, it is important to define the infecting micro-organism to direct antimicrobial therapy....
Oncomine Comprehensive Plis (OncoPllus) NGS for Solid Tumours
Comprehensive genomic profiling (CGP) is advancing precision oncology through the analysis of multiple relevant biomarkers in a single next-generation sequencing (NGS) test. From a single analysis of a small sample, one can gather comprehensive genomic information to...
Respiratory Pathogen Statistics: September 2023
Influenza A, influenza B and RSV detection rates were below 5% throughout September. SARS-CoV-2 percentage positivity ranged from 13.6-15.6% nationally in the reporting period, having increased from 10.9% in the last week of August (week 35). Testing rates were...
Gastro-Intestinal Pathogen Statistics
In the past, our knowledge of the epidemiology of infective diarrhoea in routine clinical practice, was incomplete because the traditional methods of microscopy and culture are insensitive and detect only a limited range of pathogens. The introduction of a more...
Pertussis (Whooping Cough)
Pertussis is a highly infectious respiratory infection caused by Bordetella pertussis. It remains endemic in all countries, despite high vaccine coverage. Epidemic cycles are reported every 3 to 5 years. It affects people of all ages; however, young, unimmunised or...
Genetic testing for hereditary cardiomyopathies and arrhythmias
Hereditary cardiomyopathy and arrhythmia disorders are genetically heterogeneous meaning that within each category there are multiple disease genes, and many different pathogenic (disease-causing) variants with overlapping phenotypes. Determining the gene and pattern...
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