Extension to scope of laboratory services at Rare and Inherited Disease Laboratory and SIHMDS-AG based at GOSH

Several new and updated services are now available, please see details below. An extension to the current laboratory scope has been submitted. Please note that these new and updated services are not currently accredited to the ISO 15189:2012 standard under our existing UKAS scope (UKAS accredited medical laboratory no. 7883). Remote and on-site assessment of these services was performed by UKAS assessors in May and June 2022 and the outcome is pending.

New services

1. SNParray analysis for haematological malignancies including ALL
2. RNA profiling for detection of abnormal sequences associated with acquired cancer to
   • RNA fusion panel, Illumina TruSight RNA Pan-Cancer Panel
3. G-band analysis using Leica Cytovision Karyotyping station and in house procedures
4. Fragment analysis for repeat expansion disorders
   • Dentatorubral-Pallidoluysian Atrophy (DRPLA)
   • Friedreich Ataxia (FRDA)
   • Huntington’s Disease (HD)
   • Junctophilin3 (JPH3)
   • Androgen Receptor (AR) / X-Linked Bulbospinal Neuronopathy / Kennedy’s Syndrome
   • Spinocerebellar Ataxia (SCA 1-7, 12 and 17)
   • C9orf72 Repeat-Primed and Sizing PCR
5. RNA Analysis of variants
6. Mitochondrial DNA Rearrangement Long PCR
7. Mitochondrial whole genome sequencing
8. DNA dosage analysis of mtDNA
   • Quantitation of 3 Common mtDNA Point Mutations
9. Extraction of urine and tissue samples using FujiFilm/Kurabo QuickGene-610L and FujiQuickGene-Mini80

Change to existing services
Change to existing methods

1. Non-Invasive Prenatal examination procedures for the purposes of clinical diagnosis and antenatal screening
   • Relative Haplotype Dosage Analysis (RHDO) using the Roche HyperCap target enrichment kit in combination with the KAPA library preparation kits for targeted enrichment of multiple panels of SNPs to sequence on the Illumina MiSeq and NextSeq for NIPD of single gene disorders
2. Molecular Genetics examination procedures for the purposes of clinical diagnosis
   • DNA and RNA profiling for detection of abnormal sequences for common and rare inherited/predisposing genetic disease condition by TWIST exomes
3. Molecular Genetics examination procedures for the purposes of clinical diagnosis
   • Prenatal Exome sequencing by TWIST exomes

New equipment

1. Hanabi PI metaphase harvester (to replace Hanabi PIII metaphase harvester)
2. Hanabi P5 slide maker (to replace Hanabi PIV Metaphase Auto Spreader)
3. Illumina NovaSeq sequencer (to replace Illumina HiSeq 3000 sequencer)
4. Fluidigm EP1 (to replace Fluidigm Biomark) for use with SNP genotyping for sample identity tracking
5. Dragen 2 server (in addition to current Dragen 1 server)

For more information, please contact the laboratory at gos-tr.norththamesgenomics@nhs.net