In certain situations, establishing a molecular diagnosis calls for additional efforts. A case might be particularly challenging to solve if a difficult-to-detect small copy number variant is involved, or if a disease-causing variant lies in a noncoding region, in a gene that is difficult to sequence, or within the mitochondrial genome. So what are the steps required to find the answers in more puzzling cases like these?
During this webinar, Senior Geneticist Dr Kirsty Wells presents recent challenging cases and describes the team’s approach to resolving these. Through these cases, we demonstrate the clinical importance of high-resolution CNV analysis, the need for custom solutions to improve the sensitivity of difficult-to-sequence regions, and the value of covering clinically relevant noncoding variants. The benefits of including the mitochondrial genome in the analysis will also be discussed.
Patient cases include:
- A single exon duplication as the missing second variant in a patient with cystic fibrosis
- An elusive noncoding variant finally confirming a clinical diagnosis of neurofibromatosis type I
- A diagnostic variant in a pseudogene-homology region in a case of polycystic kidney disease
- An unexpected molecular diagnosis of mitochondrial disease in a patient with hearing loss and lipodystrophy
- Describe the clinical importance of high-resolution CNV detection
- Demonstrate the power of including clinically relevant non-coding variants in the analysis
- Show how customized methods are needed to detect and confirm disease-causing variants in challenging genomic regions
- Explain the benefits of adding mitochondrial genome sequencing and copy number variant analysis to NGS panel tests
Kirsty Wells, PhD, is a Senior Geneticist at Blueprint Genetics, specializing in interpretation of ophthalmology panel and whole exome sequence data. She has a background in both research and diagnostics. Before joining Blueprint in 2018, Kirsty completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. Kirsty is a UK-certified Clinical Scientist.
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