癌症與腫瘤檢測
腦：血管中心型膠質瘤/膠質母細胞瘤/膠質瘤/腦膜血管外皮細胞瘤/腦膜瘤/寡樹突膠質細胞瘤/兒童膠質母細胞瘤/腦下垂體腺瘤/腦下垂體母細胞瘤/單發型髓母細胞瘤
眼：視網膜母細胞瘤/葡萄膜黑色素瘤
口：口腔鱗狀細胞癌/口咽癌/多形性唾液腺瘤
頭頸：頭頸癌/頭頸部鱗狀細胞癌
食道：食道鱗狀細胞癌/食道癌
肺：肺腺癌/肺癌肺鱗狀細胞癌/肺非小細胞瘤/肋膜肺母細胞瘤/肺淋巴血管平滑肌肉增生症/小細胞肺癌
胃：瀰漫性胃癌/胃癌
肝：肝腺瘤/肝母細胞瘤/肝細胞癌
膽：膽道癌/膽囊癌
胰：胰臟癌/胰臟腺泡細胞癌/胰臟神經內分泌腫瘤
腸：大腸癌/大腸直腸癌/家族性腺瘤性息肉病/空腸錯構瘤病/幼年性息肉病綜合症/林奇綜合症，MUTYH息肉病，黑斑-傑格斯綜合症/小腸神經內分泌腫瘤/小腸癌
腎：上腺皮質癌/腎透明細胞癌/腎癌/惡性類橫紋肌肉瘤/腎乳突細胞癌/腎血管平滑肌脂肪瘤/腎細胞癌/威爾姆氏腫瘤
膀胱/膀胱癌
泌尿道：泌尿道上皮癌
皮膚：圓柱瘤/結締組織增生性黑色素瘤/眼瞼皮脂腺癌/纖維性毛囊瘤/黑色素瘤/皮膚基底細胞癌，皮膚細胞癌，皮膚鱗狀細胞癌/Spitzoid黑色素細胞瘤/毛盤瘤
神經：聽覺神經瘤類癌/中樞神經血管母細胞瘤/中央神經系統腫瘤/神經節細胞瘤/神經管胚細胞瘤/神經母細胞瘤/神經上皮腫瘤/神經纖維瘤/2型神經纖維瘤/副神經節瘤/嗜鉻細胞瘤/神經鞘瘤
骨骼與血管：動脈瘤性骨囊腫/伊文氏肉瘤/骨軟骨瘤/多發性下顎骨化纖維瘤/骨肉瘤/血管肉瘤/上皮樣血管內皮細胞瘤/血管瘤
軟組織：腺泡型横纹肌肉瘤/血管瘤樣纖維組織細胞瘤/先天性纖維肉瘤/硬纖維瘤/結締組織增生性小圓細胞腫瘤/胚胎型横纹肌肉瘤/纖維黏液樣肉瘤/發炎性肌纖維母細胞腫瘤/平滑肌瘤/脂肪瘤/脂肪肉瘤/惡性間皮瘤/惡性周邊神經鞘腫瘤/間皮瘤/黏液纖維肉瘤/黏液瘤/腹膜轉移癌/横纹肌肉瘤/軟組織肉瘤/單發性纖維瘤/鱗狀細胞癌/腱鞘巨細胞瘤
內分泌：腎上腺醛固酮分泌腺瘤/內分泌瘤/家族性甲狀腺髓樣癌/甲狀腺濾泡癌/甲狀腺髓樣癌/多發性內分泌腫瘤1型/甲狀腺乳突癌/副甲狀腺腺瘤/副甲狀腺瘤/甲狀腺腺瘤/甲狀腺癌
多器官系統：腺樣囊性癌/上皮瘤/胃腸道息肉/胃腸道間質瘤/李-法美尼綜合症/肉瘤/結節性硬化症腫瘤/von Hippel-Lindau綜合症
血液：急性白血病/急性淋巴性白血病/急性巨核母細胞性白血病/急性骨髓性白血病/急性前骨髓細胞白血病/間變性大細胞淋巴瘤/非典型慢性骨髓性白血病/B細胞急性淋巴性白血病/B細胞慢性淋巴性白血病/B細胞非霍奇金氏淋巴瘤/布凱特氏淋巴瘤/化療耐藥性慢性淋巴性白血病/慢性淋巴性白血病/慢性骨髓性白血病/慢性髓性單球性白血病/瀰漫性大型B細胞淋巴瘤/早期T細胞前體急性淋巴性白血病/紅血球過多症/濾泡性淋巴瘤/霍奇金氏淋巴瘤/嗜酸性白血球增多症/少年性骨髓單核球白血病/大顆粒性淋巴球性白血病/白血病/淋巴癌/被套細胞淋巴瘤/邊緣區B細胞淋巴癌/邊緣區淋巴癌/唐氏症者之巨核母細胞性白血病/單株B淋巴球增多症/黏膜相關淋巴組織淋巴癌/多種白血病與淋巴癌/多發性骨髓瘤/骨髓造血不良症候群/多發骨髓瘤/骨髓增生性腫瘤/鼻部自然殺手/T細胞淋巴瘤/非霍奇金氏淋巴瘤/兒童伯基特淋巴瘤/小兒大顆粒淋巴細胞白血病/前體B細胞淋巴細胞白血病/原發性中樞神經系統淋巴瘤/原發性縱膈腔大B細胞淋巴瘤/併發性急性骨髓性白血病/脾臟邊緣區型淋巴癌/全身性肥大細胞增生症併發其他血液疾病/T細胞淋巴瘤/T急性淋巴性白血病/T前淋巴細胞白血病/華氏巨球蛋白血症
男性：前列腺癌/睾丸瘤
子宮(女性)：子宮內膜癌/子宮癌惡性肉瘤/子宮平滑肌瘤
卵巢(女性)：卵巢透明細胞癌/上皮性卵巢癌/卵巢顆粒細胞瘤/卵巢癌/高血鈣型卵巢小細胞癌/漿液型卵巢癌/卵巢性腺間質腫瘤
乳房(女性)：乳癌/乳房葉狀肉瘤/乳房纖維腺瘤/乳葉癌/管狀A型乳癌/分泌型乳癌
癌症與腫瘤檢測基因清單
ACVR2A, ALK, AMER1, APC, APOBEC3B, ARHGAP26, ARHGAP35, ARHGEF10, ARHGEF10L, ARHGEF12, ARID1A, ARID1B, ARID2, ARNT, ASXL1, ASXL2, ATM, ATP1A1, ATP2B3, ATR, ATRX, AXIN1, AXIN2, B2M, BAP1, BARD1, BAX, BAZ1A, BCL10, BCL11B, BCL9L, BCOR, BCORL1, BIRC3, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BTG1, BTG2, BTK, BUB1B, CAMTA1, CARS, CASP3, CASP8, CASP9, CBFA2T3, CBFB, CBL, CBLB, CBLC, CCDC6, CCNB1IP1, CCNC, CD274, CDC73, CDH1, CDH10, CDH11, CDK12, CDK4, CDKN1A, CDKN1B, CDKN2A, CDKN2C, CDX2, CEBPA, CHD2, CHEK2, CIC, CIITA, CLTC, CLTCL1, CNBP, CNOT3, CNTNAP2, CPEB3, CREB3L1, CREBBP, CSMD3, CTCF, CUL3, CUX1, CYLD, DAXX, DDB2, DDX10, DDX3X, DICER1, DNM2, DNMT3A, DROSHA, EBF1, EED, EGFR, EIF3E, ELF3, ELF4, ELL, EP300, EPAS1, EPS15, ERBB4, ERCC2, ERCC3, ERCC4, ERCC5, ESR1, ETNK1, ETV6, EXT1, EXT2, EZH2, FADD, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FAS, FAT1, FAT4, FBLN2, FBXO11, FBXW7, FEN1, FES, FH, FHIT, FLCN, FOXL2, FOXO1, FOXO3, FOXO4, FUS, GATA1, GATA3, GPC3, GPC5, GRIN2A, HNF1A, HOXA11, HOXA9, HRAS, ID3, IGF2BP2, IKZF1, IKZF3, IRF4, IRS4, JAK1, KAT6B, KDM5C, KDM6A, KDR, KEAP1, KIT, KLF4, KLF6, KMT2C, KMT2D, KNL1, LARP4B, LATS1, LATS2, LEF1, LEPROTL1, LMO1, LRIG3, LRP1B, LZTR1, MALAT1, MAP2K4, MAP3K1, MAP3K13, MAX, MED12, MEN1, MET, MGMT, MLF1, MLH1, MPL, MRTFA, MSH2, MSH6, MUTYH, MYH9, N4BP2, NAB2, NBN, NCOA4, NCOR1, NCOR2, NDRG1, NF1, NF2, NFE2L2, NFKB2, NFKBIE, NKX2-1, NOTCH1, NOTCH2, NRG1, NTHL1, NTRK1, PABPC1, PALB2, PATZ1, PAX5, PBRM1, PDGFRA, PER1, PHF6, PHOX2B, PIK3R1, PML, PMS1, PMS2, POLD1, POLE, POLG, POLQ, POT1, PPARG, PPP2R1A, PPP6C, PRDM1, PRDM2, PRF1, PRKAR1A, PTCH1, PTEN, PTK6, PTPN13, PTPN6, PTPRB, PTPRC, PTPRD, PTPRK, PTPRT, QKI, RAD17, RAD21, RAD51B, RANBP2, RB1, RBM10, RECQL4, RET, RFWD3, RHOA, RHOH, RMI2, RNF43, ROBO2, RPL10, RPL22, RPL5, RSPO2, RUNX1, RUNX1T1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD1B, SETD2, SFPQ, SFRP4, SH2B3, SIRPA, SLC34A2, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMARCE1, SMC1A, SOCS1, SOX21, SPEN, SPOP, STAG1, STAG2, STAT3, STAT5B, STK11, SUFU, SUZ12, TBL1XR1, TBX3, TCF3, TENT5C, TERT, TET1, TET2, TGFBR2, TMEM127, TNFAIP3, TNFRSF14, TP53, TP63, TPM3, TRAF7, TRIM24, TRIM33, TSC1, TSC2, TSHR, USP44, VHL, WAS, WIF1, WNK2, WRN, WT1, XPA, XPC, YWHAE, ZBTB16, ZFHX3, ZMYM3, ZNF331, ZNRF3, ZRSR2
心血管檢測疾病
主動脈病變/致心律不整性心肌病變/心房顫動/Brugada症候群/心臟傳導疾病/進行性心臟傳導疾病/兒茶酚胺多形性室性心搏過速/擴張型心肌病變/Ehlers- Danlos症候群 /遺傳性胸主動脈夾層/肥厚型心肌病變/長QT症候群/左心室緻密化不全/限制性心肌病變/竇房結疾病/短QT症候群/家族性高膽固醇血症
心血管檢測基因清單
ABCC9, ABCG5, ABCG8, ACTA2, ACTC1, ACTN2, ALPK3, APOB, APOE, BAG3, CACNA1C, CACNA1D, CALM1, CALM2, CALM3, CASQ2, CAV3, COL3A1, COX15, CRYAB, CSRP3, DES, DMD, DMPK, DSC2, DSG2, DSP, EFEMP2, ELN, EMD, FBN1, FBN2, FHL1, FHOD3, FLNA, FLNC, FXN, GAA, GJA5, GJC1, GLA, GNB2, GNB5, HCN4, JPH2, JUP, KCN5A, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LAMP2, LBD3, LDB3/ZASP, LDLR, LDLRAP1, LIPA, LMNA, LOX, MHY7, MYBPC3, MYH11, MYH7, MYL2, MYL3, MYL4, MYLK, MYO6, NEXN, NKX2, NKX3, NKX4, NKX5, NOTCH1, NPPA, PCSK9, PKP2, PLN, PRDM16, PRKAG2, PRKG1, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SGOL1, SKI, SLC25A4, SLC2A10, SLC4A3, SMAD3, SMAD4, TAZ, TBX5, TECRL, TGFB2, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRDNa, TRPM4, TTN, TTR, VCL, ZNF9
退化檢測疾病
失智症/路易氏體失智症/早發性阿茲海默症/晚發性阿茲海默症/帕金森氏症
退化檢測基因清單
ABCA7, APP, C9orf72, CCNF, CHCHD10, CHMP2B, CHRNB4, CYLD, DNMT1, SHFL, GLT8D1, GRN, HNRNPA1, HNRNPA2B1, HTRA1, MAPT, MEF2C, NOTCH3, OPTN, PARK7, PSEN1, SPG7, SQSTM1, TARDBP, TBK1, TREM2, TUBA4A, VCP
代謝檢測疾病
原發性高血壓/動脈粥狀硬化/中風/遺傳性腦血管病變/第二型糖尿病/肥胖/痛風
代謝檢測基因清單
AGT, AGTR1, PTGIS, APOE, SELP, ACSL4, ADA2, APOB, CD36, FGB, LDLR, MT-ATP6, MT-CO1, MT-CYB, MT-ND1, MT-ND5, MT-ND6, MT-TA, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, NDUFS1, NOTCH3, PIK3CA, POLG, RNF213, HTRA1, NOTCH3, ABCC8, AKT2, ENPP1, GCK, GPD2, HNF1B, HNF4A, INSR, IRS1, KCNJ11, NEUROD1, PPARG, RBPJ, SLC2A2, WFS1, BDNF, FTO, LEP, LEPR, LPR2, MC3R, MC4R, MRAP2, NPY, NTRK2, PCSK1, PMOC, SH2B1, SIM1, ABCC4, ABCG2, ALDH16A1, CARMIL1, GCKR, HPRT1, PDZK1, PKD2, PRPS1, SCGN, SLC16A9, SLC17A1, SLC17A3, SLC17A4, SLC22A11, SLC22A12, SLC22A13, SLC22A6, SLC22A8, SLC2A12, SLC2A9, UMOD