Disease Gene Test
code OMIM Gene
S D R H C P
Acute myeloid leukemia, somatic, DNMT3A related DNMT3A 30014 602769
C P*
Adenocarcinoma of lung, somatic BRAF 30007 164757
C P*
Adenocarcinoma of lung, somatic ERBB2 30017 164870
C P*
Adenoma, periampullary, somatic APC 30001 611731
C P*
Adrenal adenoma, somatic MEN1 30036 613733
C P*
Angiofibroma, somatic MEN1 30036 613733
C P*
Basal cell carcinoma type 7, susceptibility to, somatic TP53 30057 191170
C P*
Basal cell nevus syndrome PTCH1 1216 601309
S D P*
Basal cell nevus syndrome SUFU 2360 607035
S D P*
Basal cell nevus syndrome due to germline PTCH2 mutation PTCH2 2687 603673
S D P*
Beckwith-Wiedemann syndrome CDKN1C 1164 600856
S D P*
Beckwith-Wiedemann syndrome chr. 11p15 92
D P*
Beckwith-Wiedemann syndrome H19 1750 103280
S D P*
Beckwith-Wiedemann syndrome KCNQ1OT1 1749 604115
D P*
Beckwith-Wiedemann syndrome NSD1 201 606681
S D P*
Bladder cancer, HRAS related, somatic HRAS 30026 190020
C P*
Bladder cancer, somatic FGFR3 30021 134934
C P*
Bladder cancer, somatic KRAS 30035 190070
C P*
Bladder cancer, TSC1-related, somatic TSC1 30058 605284
C P*
BRAF somatic Hotspot: c.1799T>A p.V600E BRAF 45001 164757
H P*
BRAF, selective sequencing of exon 15 BRAF 45013 164757
H P*
Breast cancer, RINT1 related RINT1 2626 610089
S D P*
Breast cancer, somatic KRAS 30035 190070
C P*
Breast cancer, susceptibility to BARD1 986 601593
S D P*
Breast cancer, susceptibility to PALB2 388 610355
S D H P*
Breast cancer, susceptibility to XRCC3 2332 600675
S D P*
Breast-ovarian cancer BRCA1 1165 113705
S D H P*
Breast-ovarian cancer BRCA2 379 600185
S D H P*
Breast-ovarian cancer RAD51C 1167 602774
S D P*
Breast-ovarian cancer, familial, susceptibility to, type 4 RAD51D 1168 602954
S D P*
CALR, selective sequencing of exon 9 CALR 45019 109091
H P*
Carcinoid tumor of lung, somatic MEN1 30036 613733
C P*
Carney complex type 1 PRKAR1A 1192 188830
S D P*
Cell cycle disorder, CDC20 related CDC20 2478 603618
S D P*
Cervical cancer, somatic FGFR3 30021 134934
C P*
Colon cancer, PPARG related, somatic PPARG 30046 601487
C P*
Colorectal cancer, hereditary NRAS 1248 164790
S D H P*
Colorectal cancer, hereditary nonpolyposis type 1 MSH2 1170 609309
S D P*
Colorectal cancer, hereditary nonpolyposis type 2 MLH1 1171 120436
S D P*
Colorectal cancer, hereditary nonpolyposis type 4 PMS2 1172 600259
S D P*
Colorectal cancer, hereditary nonpolyposis type 5 MSH6 1173 600678
S D P*
Colorectal cancer, hereditary nonpolyposis type 6 TGFBR2 295 190182
S D P*
Colorectal cancer, hereditary nonpolyposis type 7 MLH3 1174 604395
S D P*
code
S D R H C P
Colorectal cancer, hereditary nonpolyposis type 8 EPCAM 1175 185535
S D P*
Colorectal cancer, hereditary, susceptibility to CCND1 2134 168461
S D P*
Colorectal Cancer, resistance to cetuximab, EGFR related, somatic EGFR 30015 131550
C P*
Colorectal cancer, somatic APC 30001 611731
C P*
Colorectal cancer, somatic BRAF 30007 164757
C P*
Colorectal cancer, somatic CTNNB1 30011 116806
C P*
Colorectal cancer, somatic DCC 30012 120470
C P*
Colorectal cancer, somatic EP300 30016 602700
C P*
Colorectal cancer, somatic FGFR3 30021 134934
C P*
Colorectal cancer, somatic FLCN 30022 607273
C P*
Colorectal cancer, somatic NRAS 30043 164790
C P*
Cowden syndrome type 1 PTEN 1176 601728
S D P*
Cowden syndrome type 5 PIK3CA 917 171834
S D P*
Cowden syndrome type 6 AKT1 1832 164730
S D P*
Cylindromatosis, familial CYLD 2541 605018
S D P*
EGFR somatic Hotspot: c.2573T>G, p.L858R EGFR 45012 131550
H P*
EGFR, selective sequencing of exons 18-21 EGFR 45017 131550
H P*
Endometrial carcinoma, somatic CDH1 30008 192090
C P*
Endometrioid carcinoma, ARID1A related, somatic ARID1A 30003 603024
C P*
Epidermal nevus, somatic NRAS 30043 164790
C P*
Esophageal cancer, somatic TGFBR2 30056 190182
C P*
Esophageal carcinoma, somatic DCC 30012 120470
C P*
Familial adenomatous polyposis coli APC 1163 611731
S D P*
Familial adenomatous polyposis coli MUTYH 1169 604933
S D P*
Familial adenomatous polyposis type 3 NTHL1 2874 602656
S D P*
Gastric cancer, BLM related, somatic BLM 30006 604610
C P*
Gastric cancer, hereditary diffuse CDH1 1177 192090
S D P*
Gastric cancer, somatic APC 30001 611731
C P*
Gastric cancer, somatic ERBB2 30017 164870
C P*
Gastric cancer, somatic FGFR2 30020 176943
C P*
Gastric cancer, somatic KLF6 30034 602053
C P*
Gastric cancer, somatic KRAS 30035 190070
C P*
Gastric cancer, somatic MUTYH 30040 604933
C P*
Gastrointestinal stromal tumor, familial KIT 1178 164920
S D P*
Gastrointestinal stromal tumor, somatic PDGFRA 30045 173490
C P*
Germ cell tumors, somatic KIT 30033 164920
C P*
Glioblastoma, somatic ERBB2 30017 164870
C P*
Glioma susceptibility 1, susceptibility to, somatic TP53 30057 191170
C P*
Glioma, susceptibility to, somatic IDH1 30027 147700
C P*
Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NCF1 1968 608512
S D P*
Hemangioblastoma, cerebellar, somatic VHL 30061 608537
C P*
Hemangioma capillary infantile ANTXR1 1707 606410
S D P*
Hemangioma, capillary infantile, familial, susceptibility to KDR 2141 191306
S D P*
Hepatoblastoma, somatic APC 30001 611731
C P*
Hepatocellular carcinoma, somatic CTNNB1 30011 116806
C P*
Hepatocellular carcinoma, somatic IGF2R 30029 147280
C P*
Hepatocellular carcinoma, somatic TP53 30057 191170
C P*
Hereditary breast and ovarian cancer syndrome, RAD50 related RAD50 2321 604040
S D P*
Hypereosinophilic syndrome, idiopathic, resistant to imatinib PDGFRA 30045 173490
C P*
IDH1, selective sequencing of exon 4 IDH1 45015 147700
H P*
IDH2, selective sequencing of exon 4 IDH2 45016 147650
H P*
JAK2, selective sequencing of exons 12, 14 and 16 JAK2 45014 147796
H P*
Juvenile polyposis syndrome BMPR1A 1179 601299
S D P*
Juvenile polyposis syndrome SMAD4 277 600993
S D P*
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome SMAD4 277 600993
S D P*
KIT, selective sequencing of exons 8, 9, 11, 13 and 17 KIT 45018 164920
H P*
KRAS somatic Hotspot: c.35G>A, p.G12D KRAS 45010 190070
H P*
KRAS somatic Hotspot: c.35G>T p.G12V KRAS 45002 190070
H P*
KRAS somatic Hotspot: c.38G>A, p.G13D KRAS 45011 190070
H P*
Leukemia, acute lymphoblastic IKZF1 30030 603023
C P*
Leukemia, acute lymphoblastic, susceptibility to PAX5 30044 167414
C P*
Leukemia, acute lymphoblastic, susceptibility to, due to PAX5 germline mutation PAX5 2377 167414
S D P*
Leukemia, acute myelogenous JAK2 30031 147796
C P*
Leukemia, acute myelogenous KRAS 30035 190070
C P*
Leukemia, acute myeloid KIT 30033 164920
C P*
Leukemia, acute myeloid RUNX1 30049 151385
C P*
Disease Gene Test
code OMIM Gene
S D R H C P
Leukemia, acute myeloid, somatic CEBPA 30010 116897
C P*
Leukemia, juvenile myelomonocytic PTPN11 30047 176876
C P*
Leukemia, lymphoblastic and myeloid, EZH2 related EZH2 30018 601573
C P*
Leukemia, megakaryoblastic, with or without Down syndrome, somatic GATA1 30024 305371
C P*
Leukemia, myeloid acute form, due to CEBPA germline mutation CEBPA 1934 116897
S D P*
Li-Fraumeni syndrome type 1 TP53 1180 191170
S D P*
Li-Fraumeni syndrome type 2 CHEK2 1181 604373
S D P*
Lipoma, somatic MEN1 30036 613733
C P*
Lung cancer, somatic KRAS 30035 190070
C P*
Lung cancer, SOX2 related, somatic SOX2 30053 184429
C P*
Lymphangioleiomyomatosis, somatic TSC2 30059 191092
C P*
Lymphoma, B-cell type BCL6 30005 109565
C P*
Lymphoma, follicular, somatic BCL10 30004 603517
C P*
Lymphoma, MALT, somatic BCL10 30004 603517
C P*
Lynch syndrome-like tumors, MLH1 related, somatic MLH1 30038 120436
C P*
Macroglobulinemia, Waldenstrom, somatic MYD88 30041 602170
C P*
Male germ cell tumor, somatic BCL10 30004 603517
C P*
Medullary thyroid carcinoma, somatic RET 30048 164761
C P*
Medulloblastoma, desmoplastic, familial SUFU 2360 607035
S D P*
Melanocytic nevus syndrome, congenital, somatic NRAS 30043 164790
C P*
Melanoma, cutaneous malignant MC1R 1274 155555
S D P*
Melanoma, cutaneous malignant MITF 777 156845
S D H P*
Melanoma, cutaneous malignant, familial CDKN2A 1186 600160
S D P*
Melanoma, cutaneous malignant, familial type 6, susceptibility to XRCC3 2332 600675
S D P*
Melanoma, cutaneous malignant, familial type 10, susceptibility to POT1 2331 606478
S D P*
Melanoma, cutaneous malignant, familial, CDK4 related CDK4 1187 123829
S D P*
Melanoma, malignant, somatic BRAF 30007 164757
C P*
Melanoma, malignant, somatic STK11 30054 602216
C P*
Meningioma, familial, PDGFB related PDGFB 1801 190040
S D P*
Meningioma, familial, susceptibility to SMARCE1 1510 603111
S D P*
Meningioma, familial, susceptibility to SUFU 2360 607035
S D P*
Meningioma, MN1 deficiency related MN1 2359 156100
S D P*
Meningioma, NF2-related, somatic NF2 30042 607379
C P*
Mesothelioma, somatic BCL10 30004 603517
C P*
Mesothelioma, somatic WT1 30062 607102
C P*
Multiple endocrine neoplasia type 1, CDKN2B related CDKN2B 1474 600431
S D P*
Multiple endocrine neoplasia type 2A RET 240 164761
S D P*
Multiple endocrine neoplasia type 2B RET 240 164761
S D P*
Multiple endocrine neoplasia type 4 CDKN1B 2608 600778
S D P*
Myelodysplastic syndrome, somatic TET2 30055 612839
C P*
Myelofibrosis with myeloid metaplasia, somatic MPL 30039 159530
C P*
Myelofibrosis, somatic JAK2 30031 147796
C P*
Myxoma, intracardiac PRKAR1A 1192 188830
S D P*
Nasopharyngeal carcinoma, somatic TP53 30057 191170
C P*
Neurocutaneous melanosis, somatic NRAS 30043 164790
C P*
Neurofibromatosis type 1 -like syndrome SPRED1 281 609291
S D P*
Neurofibromatosis type 1 NF1 182 613113
S D P*
Neurofibromatosis type 2 NF2 183 607379
S D P*
Nevus sebaceous, HRAS related, somatic HRAS 30026 190020
C P*
Nevus, epidermal, somatic FGFR3 30021 134934
C P*
Nonpolyposis hereditary colon cancer PMS1 57 600258
S D P*
Nonsmall cell lung cancer, familial, susceptibility to EGFR 1183 131550
S D P*
Nonsmall cell lung cancer, responsive to tyrosin kinase inhibitor, somatic, EGFR related EGFR 30015 131550
C P*
Nonsmall cell lung cancer, somatic BRAF 30007 164757
C P*
NRAS somatic Hotspot: c.34G>T, p.G12C NRAS 45008 164790
H P*
NRAS somatic Hotspot: c.35G>A, p.G12D NRAS 45007 164790
H P*
NRAS somatic Hotspot: c.181C>A p.Q61K NRAS 45005 164790
H P*
NRAS somatic Hotspot: c.182A>G, p.Q61R NRAS 45009 164790
H P*
Orolaryngeal cancer, multiple, somatic CDKN2A 30009 600160
C P*
Ovarian cancer, somatic CTNNB1 30011 116806
C P*
Ovarian cancer, somatic ERBB2 30017 164870
C P*
Ovarian carcinoma, somatic CDH1 30008 192090
C P*
Ovarian clear-cell carcinoma, ARID1A related, somatic ARID1A 30003 603024
C P*
Pancreatic cancer type 3, susceptibility to PALB2 388 610355
S D H P*
Pancreatic cancer, somatic SMAD4 30050 600993
C P*
Pancreatic cancer, somatic STK11 30054 602216
C P*
code
S D R H C P
Pancreatic cancer, somatic TP53 30057 191170
C P*
Pancreatic cancer/melanoma syndrome, somatic CDKN2A 30009 600160
C P*
Pancreatic carcinoma, somatic KRAS 30035 190070
C P*
Paragangliomas type 4 SDHB 261 185470
S D P*
Parathyroid adenoma, somatic MEN1 30036 613733
C P*
Peutz-Jeghers syndrome STK11 1195 602216
S D P*
Peutz-Jeghers syndrome, somatic STK11 30054 602216
C P*
Pheochromocytoma type 1 SDHA 1188 600857
S D P*
Pheochromocytoma type 2 SDHB 261 185470
S D P*
Pheochromocytoma type 3 SDHC 1189 602413
S D P*
Pheochromocytoma type 4 SDHD 1190 602690
S D P*
Pheochromocytoma type 5 SDHAF2 1191 613019
S D P*
Pheochromocytoma type 8 TMEM127 1193 613403
S D P*
Pheochromocytoma type 9 MAX 1194 154950
S D P*
PIK3CA related overgrowth spectrum, somatic PIK3CA 30067 171834
C P*
Pleuropulmonary blastoma DICER1 99 606241
S D P*
Polycythemia vera, somatic JAK2 30031 147796
C P*
Polyposis syndrome, hereditary mixed GREM1 727 603054
S D P*
Polyposis syndrome, hereditary mixed type 2 BMPR1A 1179 601299
S D P*
Prostate cancer BRCA2 379 600185
S D H P*
Prostate cancer SRD5A2 1200 607306
S D P*
Prostate cancer STAG1 1910 604358
S D P*
Prostate cancer ZNF783 2030
S D P*
Prostate cancer, familial, association with HOXB13 2736 604607
S D P*
Prostate cancer, hereditary type 1 RNASEL 1198 180435
S D P*
Prostate cancer, hereditary type 2, susceptibility to ELAC2 1197 605367
S D P*
Prostate cancer, somatic KLF6 30034 602053
C P*
Prostate tumor, AR related, somatic AR 30002 313700
C P*
Renal cancer, KDM6A related, somatic KDM6A 30032 300128
C P*
Renal carcinoma, chromophobe, somatic FLCN 30022 607273
C P*
Renal carcinoma, Tuberous sclerosis-associated, somatic TSC1 30058 605284
C P*
Renal cell carcinoma, papillary type 1, familial MET 1201 164860
S D P*
Renal cell carcinoma, papillary type 1, somatic MET 30037 164860
C P*
Renal cell carcinoma, somatic VHL 30061 608537
C P*
RET, selective sequencing of exons 5, 8, 10, 11 and 13-16 RET 2773 164761
H P*
Rhabdoid tumors, somatic SMARCB1 30052 601607
C P*
Small cell ovarian carcinoma, hypercalcemic type, SMARCA4 related, somatic SMARCA4 30051 603254
C P*
Spermatocytic seminoma, somatic FGFR3 30021 134934
C P*
Spiegler-Brooke syndrome CYLD 2541 605018
S D P*
Squamous cell carcinoma, burn scar-related, somatic FAS 30019 134637
C P*
Testicular tumor, somatic STK11 30054 602216
C P*
Thrombocythemia type 3, somatic JAK2 30031 147796
C P*
Thyroid adenoma, hyperfunctioning, somatic TSHR 30060 603372
C P*
Thyroid carcinoma with thyrotoxicosis TSHR 30060 603372
C P*
Thyroid carcinoma, follicular, HRAS related, somatic HRAS 30026 190020
C P*
Thyroid carcinoma, follicular, somatic NRAS 30043 164790
C P*
Trichoepithelioma, multiple familial, type 1 CYLD 2541 605018
S D P*
Tumor predisposition syndrome BAP1 2540 603089
S D P*
Tumor predisposition syndrome, ARL11 related ARL11 2732 609351
S D P*
Tylosis with esophageal cancer RHBDF2 1049 614404
S D P*
Uveal melanoma, GNAQ related, somatic GNAQ 30025 600998
C P*
Various cancers, DICER1 related, somatic DICER1 30013 606241
C P*
von Hippel-Lindau syndrome VHL 322 608537
S D P*
Wilms tumor, IGF2 related, somatic IGF2 30028 147470