gen-diagnostics - product list - complete probemix list Product Name Application Region A054-Campylobacter MBiT mix 1 basic Genotyping of Campylobacter jejuni isolates Campylobacter research A055-Campylobacter MBiT mix 2 basic Genotyping of Campylobacter jejuni isolates Campylobacter research ME001-Tumour suppressor mix 1 basic Tumour suppressor genes Various research ME002-Tumour suppressor mix 2 basic Tumour suppressor genes Various research ME011-MMR Mismatch repair genes (MMR) MLH1, MSH2, MSH6, MLH3, MSH3, PMS2, MGMT ME012-MGMT-IDH1-IDH2 Gliomas MGMT, IDH1, IDH2 ME024-9p21 Tumours, Cutaneous melanoma 9p21, CDKN2A, CDKNA2B ME028-PWS/AS Prader Willi syndrome (PWS), Angelman syndrome (AS) PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2 ME029-FMR1/AFF2 Fragile X FMR1, AFF2 ME030-BWS/RSS Beckwith-Wiedemann Syndrome (BWS), Russell-Silver 11p15 region, H19, IGF2, CDKN1C, Syndrome (RSS) KCNQ1 ME031-GNAS Albright hereditary osteodystrophy (AHO), GNAS 20q13.32 Pseudohypoparathyroidism (PHP) ME032-UPD7-UPD14 Uniparental disomy 6q24, 7p12, 7q32 and 14q32 ME033-TNDM Transient neonatal diabetes mellitus 6q24 ME042-CIMP basic research CpG Island Methylator Phenotype Various P002-BRCA1 CE Hereditary breast cancer (BRCA1) BRCA1 17q21.31 P003-MLH1/MSH2 CE Lynch Syndrome MLH1 3p22.2, MSH2 2p21 P004-ERBB2 Cancer ERBB2 (HER2-NEU) 17q21.1 P008-PMS2 Lynch Syndrome PMS2 7p22 P010-POLG Mitochondrial maintenance POLG, POLG2, TWNK (C10orf2; PEO1), SLC25A4 (ANT1) P011-VWF mix 1 Von Willebrand Disease (vWD) vWF 12p13 P012-VWF mix 2 Von Willebrand Disease (vWD) vWF 12p13 P013-ATRX Alpha-Thalassemia/Mental Retardation ATRX ; Xq13 P014-Chromosome 8 Tumour research Chromosome 8 P015-MECP2 RETT syndrome MECP2, Xq28 P016-VHL CE Von Hippel-Lindau Syndrome VHL, 3p25 P017-MEN1 Multiple endocrine neoplasia MEN1 11q13 P018-SHOX CE Idiopathic growth retardation SHOX-Xp22 P021-SMA Spinal Muscular Atrophy (SMA) SMN1, SMN2, 5q13 P022 -PLP1 Pelizaeus-Merzbacher disease (PMD) PLP1 Xq22 P025-Canavan Canavan disease ASPA, 17p13 P026-Sotos improved Sotos syndrome NSD1, 5q35 2017-05-10 11:17 copyright © 2017 MRC-Holland page 1 of 12 gen-diagnostics - product list - complete probemix list P027-Uveal melanoma Uveal melanoma 1p, chr.3, 6p, 8q P028-FHL Familial lymphohistiocytosis (HLH) UNC13D 17q25.1, PRF1 10q22.1, STX11 6q24.2 P029-WBS Williams-Beuren syndrome WBS criticial region 7q11.23 P031-FANCA mix 1 Fanconi Anemia (FA) FANCA 16q24.3 P032-FANCA mix 2 Fanconi Anemia (FA) FANCA 16q24.3 P033-CMT1 CE Charcot-Marie Tooth disease (CMT1), Hereditary CMT1/HNPP region, 17p12 Neuropathy with liability to Pressure Palsies (HNPP) P034-DMD-1 CE Duchenne Muscular Dystrophy (DMD) DMD, Xp21.2 P035-DMD-2 CE Duchenne Muscular Dystrophy (DMD) DMD, Xp21.2 P036-Subtelomeres Mix 1 CE Subtelomeric testing All subtelomeres P037-CLL-1 Chronic Lymphocytic Leukemia (CLL) Various P038-CLL-2 Chronic Lymphocytic Leukemia (CLL) Various P040-CLL Chronic Lymphocytic Leukemia (CLL) Various P041-ATM-1 CE Ataxia-Telangiectasia (AT) ATM 11q23 P042-ATM-2 CE Ataxia-Telangiectasia (AT) ATM 11q23 P043-APC improved Hereditary Polyposis Colon Cancer APC, 5q21-q22 P044-NF2 Neurofibromatosis type 2 (NF2) NF2 22q12 P045-BRCA2/CHEK2 CE Breast cancer, hereditary BRCA2, CHEK2 P046-TSC2 Tuberous Sclerosis TSC2 16p13.3 P047-RB1 Retinoblastoma (RB) RB1 13q14 P048-LMNA/MYOT/ZMPSTE24 Laminopathies, Limb-girdle muscular dystrophy, LMNA 1q22; ZMPSTE24 1p34; MYOT Myofibrillar myopathies 5q31; CAV3 3p25 P049-SLC6A8 - ABCD1 Creatine transporter, x-linked SLC6A8, Xq28 P050-CAH Congenital Adrenal Hyperplasia CYP21A2 6p21.3 P051-Parkinson mix 1 Parkinson disease, familial PARK2 6q25.2, SNCA 4q21, Pink1, Park7 1p36 P052-Parkinson mix 2 Parkinson disease, familial PARK2 6q25.2, UCHL1 4p14, GCH1 14q22.1, LRRK2 12q12 P054-FOXL2-TWIST1 Ophthalmogenetic anomalies FOXL2 , TWIST1, FOXC1, FOXC2, ATR, PITX2, GPR143 P055-PAH CE Phenylketonuria PAH 12q23.2 P056-TP53 Li-Fraumeni syndrome (LFS) and tumour analysis TP53 17p13.1 P057-FANCD2-PALB2 Fanconi anemia (FA) FANCD2. 3p25.3, PALB2 16p12 P058-IGHMBP2 Distal spinal muscular atrophy 1 (DSMA1), SMARD1, IGHMBP2 11q13 dHMN6 P059-Dystonia Dystonia PRKRA; THAP1; TOR1A; ATP1A3 P060-SMA CE Spinal Muscular Atrophy (SMA) SMN1, SMN2, 5q13 P061-Lissencephaly improved Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA P062-LDLR CE Hypercholesterolemia, familial LDLR 19p13.2 P063-FHIT-WWOX Diverse tumour types, epileptic encephalopathy FHIT (3p14.2) and WWOX (16q23.1) 2017-05-10 11:17 copyright © 2017 MRC-Holland page 2 of 12 gen-diagnostics - product list - complete probemix list P064-MR-1 Mental Retardation; 1p-deletion, Williams, Smith- Various Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos P065-Marfan-1 Marfan syndrome FBN1 15q21.1, TGFBR2 3p22 P066-Marfan-2 Marfan syndrome FBN1 15q21.1 P067-PTCH1 Gorlin syndrome PTCH1 9q22.3 P069-Subtelomeres Mix 2A CE Subtelomeric testing All subtelomeres P070-Subtelomeres Mix 2B CE Subtelomeric testing All subtelomeres P071-LMNB1-PLP1-NOTCH3 Leukodystrophy LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 P072-MSH6 Lynch Syndrome MSH6 P073-IKBKG Incontinentia Pigmenti Xq28; IKBKG, NEMO, IKBKGP P074-AR Androgen insensitivity syndrome (AIS) AR Xq12 P075-TCF4-FOXG1 Pitt-Hopkins syndrome, Congential variant of Rett TCF4, FOXG1 syndrome P076-ACADVL-SLC22A5 VLCAD/Primary Carnitine ACADVL, SLC22A5 P077-BRCA2 Breast cancer, hereditary BRCA2 P078-Breast tumour Breast tumour various P079-OTC Ornithine transcarbamylase (OTC) OTC Xp11.4 P080-Craniofacial Craniofacial disorders FGFRs, TWIST, MSX2, ALX4, RUNX2 P081-NF1 mix 1 Neurofibromatosis NF1 17q11.2 P082-NF1 mix 2 Neurofibromatosis NF1 17q11.2 P083-CDH1 Hereditary diffuse gastric cancer CDH1 at 16q22.1 P087-BRCA1 Breast cancer, hereditary BRCA1 P088-Oligodendroglioma 1p-19q Oligodendroglioma 1p, 19q, IDH1/2, CDKN2A/2B P089-TK2 mtDNA depletion syndrome TK2, MPV17, DGUOK, RRM2B, SUCLA2, SUCLG1 P090-BRCA2 CE Breast cancer, hereditary BRCA2 13q13.1 P091-CFTR CE Cystic Fibrosis CFTR 7q31.2 P092-ABCC6 Pseudoxanthoma elasticum ABCC6 16p13.11 P093-HHT/PPH1 Hemorrhagic telangiectasia, hereditary (HHT), Primary ENG 9q34.11, ACVRL1 12q13.3, BMPR2 pulmonary hypertension (PPH1) 2q33.1-2 P094-MEFV Mediterranean fever, familial (MEFV) MEFV 16p13.3 P095-Aneuploidy CE Down syndrome, Edwards syndrome, Patau syndrome Chr. 13, 18, 21, X, Y P096-MR-2 Mental retardation, Wolf-Hirschhorn, Cri du Chat, Langer- Various Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki P098-Wilson Wilson disease ATP7B 13q14.3 P099-GCH1-TH-SGCE Dopa-responsive dystonia, Segawa disease; Myoclonus- TH 11p15.5, GCH114q22, SGCE 7q21 dystonia syndrome P100-MYBPC3 Hypertrophic cardiomyopathy, familial MYBPC3 11p11.2 P101-STK11 Peutz-Jeghers syndrome (PJS) STK11 19p13.3 P102-HBB Thalassemia, beta-zero HBB 11p15.5 2017-05-10 11:17 copyright © 2017 MRC-Holland page 3 of 12 gen-diagnostics - product list - complete probemix list P103-DPYD Dihydropyrimidine dehydrogenase (DPYD) deficiency DPYD 1p22 P104-Menkes ATP7A Menkes disease ATP7A Xq13.3 P105-Glioma-2 Glioma, malignant EGFR, TP53, PTEN + various other P106-MRX Mental retardation, x-linked (XLMR) Chromosome X P107-Neurometabolic Neurometabolic disorders ASPA, MLC1, MLYCD, D2HGDH, L2HGDH P108-SCN5A Brugada / long QT SCN5A 3p22 P109-ABCB4 Drug-transport pump ABCB4 7q21,1 P110-FCGR mix 1 basic research FCGR genes 1q23.3 FCGR genes 1q23.3 P111-FCGR mix 2 basic research FCGR genes 1q23.3 FCGR genes 1q23.3 P112-PROS1 PROS1 deficiency PROS1 3q11.2 P114-Long-QT Congenital long QT syndrome (LQT) KCNQ1 11p15.5, KCNH2 7q35 P116-SGC Limb-girdle muscular dystrophy (LGMD) SGCA, SGCB, SGCD, SGCG, FKRP P117-ABCC8 Hyperinsulinemic hypoglycemia, familial (HHF1) ABCC8 11p15.1 P118-WT1 Wilms tumours, WAGR, Denys-Drash, Frasier syndrome. WT1 11p13 P120-PANK2/PLA2G6 Neurodegeneration with brain iron accumulation (NBIA) PANK2 20q13, PLA2G6 22q13 P122-NF1-area Neurofibromatosis NF1 17q11.2 P124-TSC1 Tuberous Sclerosis TSC1 9q34 P125-Mitochondria Mitochondrial DNA (mtDNA) Mitochondria P128-CYP450 basic research Cytochrome P-450 CYP2D6, CYP2C9, CYP2C19, CYP1B1, CYP3A4, CYP3A5, CYP2E1, CYP1A1, CYP1A2, CYP2A6, CYP2B6, GSTP1, GSTT1 and GSTM1 P129-GJB1 Charcot Marie Tooth disease, x-linked GJB1 Xq13.1 P130-CCM mix-1 Cerebral Cavernous Malformations (CCM) CCM 7q21 P131-CCM mix-2 Cerebral Cavernous Malformations (CCM) CCM 7q21 P133-Kallmann-2 Kallmann syndrome FGFR1 8p11.2, GNRHR 8p21, KISSR1 19p13.3 , GNRH1, NELF 9q34.3 P136-Gitelman Gitelman syndrome SLC12A3 16q13 P137-SCN1A Epilepsy SCN1A 2q24.3 P138-SLC2A1-STXBP1 Glut1 deficiency syndrome SLC2A1, STXBP1 P140-HBA CE Thalassemias, Alpha HBA 16p P141-NIPBL-1 Cornelia de Lange syndrome (CDLS) NIPBL 5p13.2 P142-NIPBL-2 Cornelia de Lange syndrome (CDLS) NIPBL 5q13.1 P143-MFN2-MPZ Charcot-Marie-Tooth disease (CMT2A/1B) MFN2 1p36.22, MPZ 1q23.3 P146-CRC GAIN basic research Colon cancer Various P147-1p36 1p36 deletion syndrome 1p36 P148-TGFBR1-TGFBR2 Aortic aneurysm syndrome TGFBR1 9q22, TGFBR2 3p22 P151-ABCA4 mix-1 Stargardt, Macular dystrophy, Retinitis pigmentosa, age- ABCA4 (ABCR) 1p22.1 related macular degeneration, cone rod dystrophies P152-ABCA4 mix-2 Stargardt, Macular dystrophy, Retinitis pigmentosa, age- ABCA4 (ABCR) 1p22.1 2017-05-10 11:17 copyright © 2017 MRC-Holland page 4 of 12 gen-diagnostics - product list - complete probemix list related macular degeneration, cone rod dystrophies P153-EYA1 Branchio-oto-renal dysplasia syndrome (BOR) EYA1 8q13.3. P154-GPC3-GPC4 Simpson-Golabi-Behmel syndrome (SGBS) GPC3, GPC4, Xq26 P155-EDS The Ehlers-Danlos