Genetic finding detected

204871000237101Apolipoprotein B gene mutation positive finding

204901000237101Apolipoprotein E gene mutation positive finding

445333001Breast cancer genetic marker of susceptibility detected finding

912201000000104FBN1 gene mutation positive finding

1371022004Germline RB1 gene mutation detected finding

738783002HLA-A*31:01 detected finding

738785009HLA-B*15:02 detected finding

1379920007HLA-B*15:11 detected finding

738288005HLA-B*57:01 detected finding

739072007HLA-B*58:01 positive finding

1296783008Hereditary alpha-tryptasaemia trait detected finding

1099611000119109Hereditary non-polyposis colon cancer gene mutation detected finding

1279971008Heterozygous NFKBIA gene mutation detected finding

702783007Heterozygous protocadherin 19 gene mutation detected finding

1365952004High risk variant of apolipoprotein L1 gene detected finding

248211000000106Human epidermal growth factor receptor 2 gene positive finding

1003641004Human leucocyte antigen DQB1*02:02 positive finding

204891000237102Low density lipoprotein receptor gene mutation positive finding

1365954003Low risk variant of apolipoprotein L1 gene detected finding

1365861003Lynch syndrome gene mutation detected finding

1100931000168109Maternally inherited SDHD gene mutation detected finding

702782002Mitochondrial 1555 A to G mutation detected finding

1357792009PTEN (phosphatase and tensin homolog) gene mutation detected finding

1100941000168100Paternally inherited SDHD gene mutation detected finding

204881000237104Proprotein convertase subtilisin/kexin type 9 gene mutation positive finding

1100911000168104SDHA gene mutation detected finding

1100901000168102SDHB gene mutation detected finding

1100921000168106SDHC gene mutation detected finding

719007008Tumour protein p53 detected finding

Synonyms