Cost Item	Unit cost (GBP)	Source
FISH	185.95	The Newcastle upon Tyne Hospitals NHS Foundation Trust (2020)
CISH	185.95	The Newcastle upon Tyne Hospitals NHS Foundation Trust (2020)
PCR‐based LOH	142.21	The Newcastle upon Tyne Hospitals NHS Foundation Trust (2020)
Real‐time PCR	142.21	The Newcastle upon Tyne Hospitals NHS Foundation Trust (2020)
MLPA	73.08	The Newcastle upon Tyne Hospitals NHS Foundation Trust (2020)
aCGH	233.47	Sagoo GS, Mohammed S, Barton G, Norbury G, Ahn JW, Ogilvie CM, et al. Cost effectiveness of using array‐CGH for diagnosing learning disability. Applied Health Economic and Health Policy 2015;13:421‐32.
SNP array	256.80	The Newcastle upon Tyne Hospitals NHS Foundation Trust (2020)
NGS	570.87	Marino P, Touzani R, Perrier L, Rouleau E, Kossi DS, Zhaomin Z, et al. Cost of cancer diagnosis using next‐generation sequencing targeted gene panels in routine practice: a nationwide French study. European Journal of Human Genetics 2018;26:314‐23.
aCGH: array comparative genomic hybridisation; CISH: chromogenic in situ hybridisation; FISH: fluorescent in situ hybridisation; LOH: loss of heterozygosity; MLPA: multiplex‐ligation‐dependent probe amplification; NGS: next‐generation sequencing; PCR: polymerase chain reaction; SNP: single nucleotide polymorphism.