Product List - Complete Probemix List

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

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)

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

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

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 syndrome type III (EDS III) COL3A1 2q31, TNXB 6p21.3.

P156-GALT Classic galactosemia GALT 9p13

P157-20q region Colon cancer, breast cancer and various others 20q (BCL2L1, MYBL2, ZNF217, DNMT3B, AURKA, GNAS)

P158-JPS Juvenile polyposis syndrome (JPS) BMPR1A 10q22, SMAD4 18q21, PTEN 10q23

P159-GLA Fabry Disease GLA Xq22

P160-STS Steroid Sulfatase gene (STS) STS Xp22

P163-GJB-WFS1 Hearing loss GJB3 1p34.3 (connexin 31), WFS1 4p16.1 (Wolframin)

P164-IDS Mucopolysaccharidosis type II, or Hunter syndrome IDS Xq28

P165-HSP Spastic paraplegia, hereditary (HSP) SPG3A 14q21, SPAST 2p22

P166-KCNQ2 Benign familial neonatal convulsion (BFNC) KCNQ2 20q13.33

P168-ARVC-PKP2 Arrhythmogenic Right Ventricular DSP 6p24, PKP2 12q11.21 Dysplasia/Cardiomyopathy (ARVD/C)

P169-Hirschsprung-1 Hirschsprung disease, or Aganglionic Megacolon RET 10q11.2, ZFHX1B 2q22.3, EDN3 20q13.3 and GDNF 5q13.2

P170-APP Alzheimer disease, early-onset APP 21q21.3

P175-Tumour Gain basic research Tumour Gain various

P176-CAPN3 Limb girdle muscular dystrophy 2A (LGMD2A) CAPN3 15q15.1

P177-CASR Hypocalciuric Hypercalcemia, familial CASR 3q13

P178-F8 Haemophilia A, x-linked F8 gene, Xq28

P179-Limb-1 Limb malformations GLI3 7p14.1, HOXD13 2q31.1, ROR2 9q22.31

P180-Limb-2 Limb malformations, heart SALL1 16q12, SALL4 20q13, TBX5 12q24

P181-Centromere mix 1 Centromeric screening Centromeres

P182-Centromere mix 2 Centromeric testing Centromeres

P183-EDA Ectodermal dysplasia, x-linked (XLHED) EDA Xq12-q13.1

P184-JAG1 Alagille Syndrome (ALGS) JAG1 20p12.2

P185-Intersex Sex determination SOX9 17q24.3; NR5A1 9q33; WNT4 1p36.12; CXorf21 & NROB1 Xp21.2

P186-PAX3-MITF-SOX10 Waardenburg syndrome (WS) type II, WS1, WS3 PAX3 2q35, MITF 3p14, SOX10 22q13.1

P187-HPE Holoprosencephaly (HPE) PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11

P188-22q13 Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3, SHANK3, ACR, RABL2B 22q13.3

P189-CDKL5 Rett syndrome, atypical CDKL5 Xp22, NTNG1 1p13.3, ARX Xp21.3

P190-CHEK2 Breast cancer susceptibility CHEK2 22q12, ATM , PTEN, TP53

P191-Alport-mix1 Alport syndrome, Hereditary Nephritis COL4A5 Xq22

P192-Alport-mix2 Alport syndrome, Hereditary Nephritis COL4A5 Xq22

P193-NPC1-NPC2-SMPD1 Niemann-Pick type C disease (NPC) NPC1, NPC2

P196-TNNT2-BAG3 Hypertrophic cardiomyopathy familial, Dilated TNNT2 1q32; BAG3 10q25 cardiomyopathy

P197-KCNQ3 Neonatal convulsions type 2, familial (BFNC2), Epilepsy KCNQ3 8q24.22; CHRNA4 20q13.33; benign neonatal type 2 (EBN2) EPM2A 6q24.3; NHLRC1 6p22.3; CHRNB2 1q21.3; KCNQ1 11p55.5-4

P198-FH Fumarase deficiency (FH) FH

P199-HEXA Tay-Sachs Disease HEXA 15q23

P200-Reference-1 Synthetic 'home-made' probes Reference probes + control fragments

P201-CHARGE CHARGE syndrome CHD7 8q12.2

P202-IKZF1 (IKAROS) Acute lymphoplastic leukemia (ALL), CML IKZF1 7p12.2

P203-PKLR Haemolytic Anaemia, hereditary non-spherocytic PKLR 1q22

P205-SH2D1A-XIAP-ITK Lymphoproliferative syndrome SH2D1A and XIAP (Xq25); ITK (5q33)

P207-F9 Factor IX deficiency, Christmas disease F9 Xq27.1

P208-Human Telomere-6 Subtelomeric testing 2p, 3p, 6p, 8p

P209-Glycine Encephalopathy Glycine encephalopathy GLDC 9p22

P211-HSP region Hereditary Spastic Paraplegias (HSPs) region SPAST 2p22, NIPA1 15q11

P212-DBA Diamond-Blackfan anemia (DBA) RPL11, RPL5, RPL35A, RPS26, RPS17 and RPS19

P213-HSP mix-2 Hereditary spastic paraplegias (HSPs) REEP1 (SPG31) 2p11.2, SPG7 16q24.3

P214-COL2A1 Skeletal disorders, Achondrogenesis, Chondrodysplasia, COL2A1 12q13.11-q13.2 Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal

P215-EXT Multiple Osteochondromas EXT1 8q24, EXT2 11p11

P216-GHD mix1 Growth Hormone Deficiency (GHD) GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3

P217-IGF1R Insulin-like growth factor 1 receptor (IGF1R) IGFR1, IGFBP3.

P218-LPL LPL deficiency LPL 8p21.3

P219-PAX6 Ocular malformations, hereditary PAX6 11p13, SOX2 3q26, WT1, 11p13

P220-Obesity Obesity LEPR, POMC, LEP, SIM1, MC3R, MC4R

P221-LCA mix-1 Leber congenital amaurosis (LCA) AIPL1 17p13, CRB1 1q31, CRX 19q13, RPE65 1p31

P222-LCA mix-2 Leber congenital amaurosis (LCA) GUCY2D 17p13.1, RDH12 14q24, RPGRIP1 14q11, CEP290 12q21

P223-PHEX Hypophosphatemia, x-linked PHEX Xp22.2, FGF23 12p13

P224-PPARG Obesity, Diabetes mellitis type II, Familial partial PPARG 3p25.2 lipodystrophy III, Colon cancer

P225-PTEN Cowden syndrome and tumour analysis PTEN 10q23

P226-SDH Paragangliomas (PGL) SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3

P227-SerpinC1 Antithrombin (III) deficiency SerpinC1 1q25.1

P228-TRPS1-EXT1 Trichorhinophalangeal syndrome type I (TRPS1), Langer- TRPS1, EXT1, 8q24 Giedion syndrome (LGS)

P229-OPA1 Macular dystrophy OPA1 3q28, VMD2 11q13, RDS 6p21.2

P230-Human Telomere-7 Subtelomeric testing 9p, 10p, 11p, 12p

P231-FGF10-FGFR2 Autosomal dominant lacrimoauriculodentodigital (LADD) FGF10 5p13, FGFR2 10q26

P232-FGD1 Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome FGD1 Xp11.21

P233-MID1 OPITZ syndrome MID1 Xp22

P234-GATA3 - GATA4 Cardiac septal defects GATA4 8p23, GATA3 10p15

P235-Retinitis Retinitis Pigmentosa RHO 3q21.3, RP1 8q11.2, IMPDH1 7q32, PRPF31 19q13.4

P236-ARMD mix-1 basic research Age-related macular degeneration (ARMD) CFH, CFHR3, CFHR1, CFHR2, 1q23

P237-DNAI1 Primary ciliary dyskinesia (PCD) DNAI1 9p21

P238-DNAH5 Primary ciliary dyskinesia (PCD) DNAH5 5p15

P239-BRCA1 region Breast cancer BRCA1 region

P240-BRIP1/CHEK1 Hereditary predisposition to Cancer BRIP1 17q22, CHEK1 11q22

P241-MODY Maturity-Onset Diabetes of the Young (MODY) MODY 1, 2, 3; 5

P242-Pancreatitis Hereditary Pancreatitis (HP) PRSS1 7q34, SPINK1 5q32

P243-SERPING1 - F12 Hereditary angioedema (HAE) SERPING1 11q12.1; F12 5q35.3

P244-AIP-MEN1-CDKN1B Multiple endocrine neoplasia (MEN) AIP 11q13, MEN1 11q13, CDKN1B 12p13

P245-Microdeletion Syndromes1A CE Microdeletion syndromes Various

P247-Chemokine-2 basic research Chemokines CXCR4, CX3CR1, CCR5, CCR2, CD4, CD209

P248-MLH1-MSH2 Confirmation Lynch Syndrome MLH1 3p21.3, MSH2 2p21

P249-Human Telomere-8 Subtelomeric testing 17p, 18p, 19p, 20p

P250-DiGeorge CE DiGeorge syndrome 22q11

P251-NB mix 1 Neuroblastoma 1p36, 3p22/3p21.3 and 11q23

P252-NB mix 2 Neuroblastoma 2p24.1/MYCN, 2q33, 17p13/TP53, 17q

P253-NB mix 3 Neuroblastoma Chromosomes 4, 7, 9, 12, 14

P254-PSEN1 Alzheimer's disease (AD) PSEN1 14q24.2

P255-ALDOB-FBP1 Fructose intolerance ALDOB FBP1 9q21

P256-FLCN Birt-Hogg-Dube syndrome FLCN 17p11, Smith-Magenis syndrome region

P257-TERT-DKC1 Dyskeratosis congenita (DC) DKC1 Xq28

P258-SMARCB1 Rhabdoid tumors SMARCB1 22q11.2

P259-RPS6KA3 Coffin-Lowry Syndrome (CLS) RPS6KA3, PQBP1.

P260-PALB2-RAD50-RAD51C-RAD51D Fanconi Anemia 5q31, 16p12, 17q12, 17q22

P265-PROC Protein C deficiency (PROC) PROC 2q14.3

P266-CLCNKB Bartter syndrome type 3 CLCNKB 1p36.13

P267-Dandy-Walker Dandy-Walker Malformation (DWM) ZIC1, ZIC4 3p2, VLDLR 9p24

P268-DYSF Limb girdle muscular dystrophies (LGMD) DYSF 2p13

P269-FRMD7 Congenital nystagmus Xq26 (NYS1 locus), FRMD7

P271-COL1A1 Osteogenesis imperfecta (OI) COL1A1 17q21.3

P272-COL1A2 Osteogenesis imperfecta (OI) COL1A2 7q21.3

P274-SLC6A5/GLRA1/GLRB Startle disease, Hyperekplexia GLRB 4q32.1, GLRA1 5q33.1, SLC6A5 11p15.1

P275-MAPT-GRN Alzheimer's disease, Pick's disease, frontotemporal MAPT 17q21 dementia, cortico-basal degeneration, progressive supranuclear palsy

P277-Human Telomere-10 Subtelomeric testing 5q, 6q, 7q, 8q

P278-PCCA Propionic acidemia PCCA 13q32

P279-CACNA1A Episodic ataxia 2, Familial hemiplegic migraine CACNA1A

P280-SLC26A4 Pendred syndrome SLC26A4 7q31

P281-RYR1 mix 1 Malignant Hyperthermia (MH) RYR1

P282-RYR1 mix 2 Malignant Hyperthermia (MH) RYR1

P283-TPMT Thiopurine S-methyltransferase (TPMT; S-adenosyl-L- TPMT 6p22 methionine:thiopurine S-methyltransferase)

P285-LRP5 Osteoporosis-pseudoglioma syndrome (OPPS) LRP5 11q13.4, DKK1 10q11.2

P286-Human Telomere-11 Subtelomeric testing 9q, 10q, 11q, 12q

P289-LMX1B Nail patella syndrome (NPS) LMX1B 9q33

P290-Prenatal Prenatal microdeletion testing Various

P291-Human Telomere-12 Subtelomeric testing 13q, 14q, 15q, 16q

P292-PCDH15 Usher syndrome PCDH15 10q21.1

P294-Tumour Loss basic research Tumour Loss various

P295-SPRED1 SPRED1 SPRED1 15q14

P296-aHUS Hemolytic uremic syndrome, atypical (aHUS) CFI 4q25

P297-Microdeletion-2 Microdeletion syndromes Various

P298-BRAF-HRAS-KRAS-NRAS basic Various tumour types BRAF, HRAS, KRAS, NRAS research

P300-Reference-2 Synthetic 'home-made' probes Reference probes + control fragments

P301-Medulloblastoma mix 1 Medulloblastoma Chr. 6, Chr. 14, Chr. 16, Chr. 17.

P302-Medulloblastoma mix 2 Medulloblastoma Chr. 2, Chr. 3, Chr. 7, Chr. 9

P303-Medulloblastoma mix 3 Medulloblastoma Chr. 1, Chr. 4, Chr. 5, Chr. 8, Chr. 10, Chr. 20

P304-IRF6-GRHL3 Van der Woude syndrome (VWS) IRF6, 1q32.2; GRHL3 1p36.11

P305-AGXT Primary hyperoxaluria, type 1 (PH1) & type 2 (PH2) AGXT, GRHPR

P306-SPG11 Hereditary spastic paraplegia (HSP or SPG) SPG11 or KIAA1840 15q21.1

P307-SEPT9 Hereditary neuralgic amyotrophy (HNA) SEPT9 17q25.3

P308-MET Papillary renal carcinoma, various cancers MET 7q31, PTEN 10q23.31, LRRK2 12q12

P309-MTM1 Myotubular myopathy, x-linked (XLMTM) MTM1 Xq28, MTMR1 Xq28

P310-TCOF1 Treacher Collins-Franceschetti 1 TCOF1

P311-CHD Congenital Heart Disease (CHD) GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25

P312-POR Congenital adrenal hyperplasia (CAH) P450 oxireductase gene (POR)

P313-CREBBP Rubinstein–Taybi syndrome (RSTS) CREBBP 16p13.3

P315-EGFR Tumours, solid EGFR 7p11

P316-Recessive Ataxias Recessive Ataxias SETX, APTX, FXN.

P318-Hirschsprung-2 Hirschsprung disease PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN, SOX10

P319-Thyroid Thyroid dysgenesis TPO, PAX8, FOXE1, NKX2-1, TSHR

P320-Human Telomere-13 Subtelomeric testing 17q, 18q, 19q, 20q.

P321-VPS13B mix 1 Cohen syndrome VPS13B 8q22

P322-VPS13B mix 2 Cohen syndrome VPS13B 8q22

P323-CDK4-HMGA2-MDM2 Sarcoma and other tumour types chromosome 12, MDM2, CDK4 and HMGA2 genes

P325-OCA2 oculocutaneous albinism OCA2 15q12; TYR 11q14.3

P326-LARGE Walker-Warburg Syndrome LARGE, FKTN, POMT2

P327-iAMP21-ERG ALL, iAMP21 iAMP21, RUNX1, ERG

P328-EYS Retinitis Pigmentosa EYS 6q12

P329-CRLF2-CSF2RA-IL3RA ALL Xp22.33

P330-PCDH19 Epilepsy (EFMR) PCDH19

P331-COL5A1 MIX-1 Ehlers-Danlos Syndrome COL5A1 9q34.3

P332-COL5A1 MIX-2 Ehlers-Danlos Syndrome COL5A1 9q34.3

P333-EP300 Rubinstein–Taybi syndrome (RSTS) EP300; 22q13.2

P334-Gonadal Gonadal Development Disorder DMRT1, CYP17A1, SRD5A2, HSD17B3

P335-ALL-IKZF1 ALL IKZF1, PAX5, ETV6, RB1, BTG1, EBF1, CDKN2A-CDKN2B, Xp22.33

P336-UBE3A Angelman UBE3A, MTHFR, GABRB3

P337-TSC2 Tuberous sclerosis TSC2 gene, 16p13.3

P338-GBA basic research Gaucher disease GBA 1q22

P339-SHANK3 Autism Spectrum Disorder SHANK3 22q13.33

P341-PKHD1 mix 1 Autosomal Recessive Polycystic Kidney Disease PKHD1 (ARPKD)

P342-PKHD1 mix 2 Autosomal Recessive Polycystic Kidney Disease PKHD1 (ARPKD)

P343-Autism-1 Autism 15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13

P344-SULT1A1 SULT1A1 copy number 16p11.2

P347-Hemochromatosis Hereditary hemochromatosis (HH) HFE, SLC40A1, TFR2, HFE2, HAMP

P348-ATP1A2-CACNA1A Migraine 1q23, 19p13

P350-CLCN1-KCNJ2 Myotonia congenita, Thomsen’s disease, Becker’s CLCN1, KCNJ2 disease, Andersen-Tawil syndrome

P351-PKD1 Autosomal Dominant Polycystic Kidney Disease PKD1 (ADPKD)

P352-PKD1-PKD2 Autosomal Dominant Polycystic Kidney Disease PKD1, PKD2 (ADPKD)

P353-CMT4 autosomal recessive demyelinating form SH3TC2; NEFL; GDAP1; EGR2; SBF2; MTMR2; PRX

P354-KIT SNAI2 Piebaldism/KIT KIT 4q12, SNAI2 8q11

P355-Microcephaly Primary Microcephaly MCPH1, ASPM, CDK5RAP2, CENPJ, STIL

P356-Chromosome 22q Subtelomeric testing 22q11, 22q13

P357-MODY mix-2 Maturity-Onset Diabetes of the Young (MODY) MODY 4; 6-10

P358-Human Telomere-15 Subtelomeric testing 4p, 5p telomeres and 13q,14q centromere regions

P359-PLOD1 Ehlers-Danlos syndrome type VI; Kyphoscoliotic Form 1p36.22

P360-Y-Chromosome basic research Y-Chromosome Microdeletions Chromosome Y

P361-USH2A mix 1 Usher syndrome USH2A 1q41

P362-USH2A mix 2 Usher syndrome USH2A 1q41

P365-Human Telomere-14 Subtelomeric testing 7p, 15q-cen, 16p, 21q-cen, 21q

P366-CHM-RP2-RPGR Retinitis pigmentosa (RP) CHM-RP2-RPGR

P367-BEST1-PRPH2 Macular Dystrophy, Vitelliform BEST1 (=VDM2), PRPH2 (=RDS)

P368-DCLRE1C SCID and Omenn syndrome 10p13; DCLRE1C

P369-Smith-Magenis Smith-Magenis syndrome 17p11.2

P370-BRAF-IDH1-IDH2 basic research Gliomas BRAF, IDH1, IDH2, FGFR1, MYB, MYBL1, CDKN2A

P371-Microdeletion-5 Microdeletion follow-up 2p16, Langer Giedion, 9q22, WAGR, 15q24, 17q21

P372-Microdeletion-6 Microdeletion follow-up Sotos, DiGeorge, Rubinstein-Taybi, NF1

P373-Microdeletion-7 improved Microdeletion follow-up 1p36, 3q29, Wolf-Hirschhorn, Cri du Chat, Phelan-McDermid

P374-Microdeletion-8 Microdeletion follow-up: 7q11, PWS/AS, Miller-Dieker, 7q11, PWS/AS, Miller-Dieker, Smith- Smith-Magenis, RETT Magenis, RETT

P376-BRCA1ness BRCA1-like breast cancer profile various

P377-Hematologic malign. Hematological malignancies, various various

P378-MUTYH Colon cancer, stomach cancer (hereditary) 1p34 and 15q13

P379-NRXN1 Pitt-Hopkins-like syndrome 2 NRXN1

P380-Wilms' tumour Wilms' tumour various

P381-COL11A1 mix 1 Marshall, type II Stickler syndromes COL11A1

P382-COL11A1 mix 2 Marshall, type II Stickler syndromes COL11A1

P383-T-ALL T-ALL various

P385-DOCK8 HIES 9p24.3

P386-DOCK8 STAT3 HIES 17q21.2, 9p24.3

P387-NPHP1 Nephronophthisis 1 NPHP1 2q13

P388-AGS Aicardi-Goutieres Syndrome RNASEH2A, B & C genes, TREX1, SAMHD1

P389-MLL2 Kabuki syndrome MLL2 gene

P391-LAMA2 mix 1 CMD, Merosin-deficient 6q22.33

P392-LAMA2 mix 2 CMD, Merosin-deficient 6q22.33

P393-SLC26A3 Congenital Chloride Diarrhoea SLC26A3 7q31.1

P394-MYO5B Microvillus Inclusion Disease (MVID) MYO5B 18q21.1

P395-MEF2C-FOXG1 mental retardation MEF2C 5q14.3, FOXG1 14q12

P396-SHANK2 Autism-spectrum disorder SHANK2 11q13.3

P397-SCN4A-CACNA1S nondystrophic myotonias and primary periodic paralyses CACNA1S, SCN4A

P398-CASK X-linked mental retardation and MICPCH CASK

P405-CMT1 CE Charcot Marie Tooth Disease CMT/HNPP region at 17p12

P406-CMT2 CMT2B/2D/2F various

P408-ADLTE-LGI1 Autosomal Dominant Lateral Temporal Lobe Epilepsy, ADAM22, GPR98, KCNA1, KCNA4, ADLTE KCNAB1, LGI1, PDYN

P409-RASA1 capillary malformations, Parkes Weber syndrome RASA1 5q14.3

P410-GRIN2A GRIN2B epilepsy, mental retardation 16p13.2 GRIN2A, 12p13.1 GRIN2B

P411-Porphyria mix 1 Porphyrias ALAD, HMBS, PPOX

P412-Porphyria mix 2 Porphyrias FECH, UROS, UROD, CPOX

P413-CRC LOSS basic research Colorectal adenoma/carcinoma 8p, 15q, 17p, 18q

P414-MDS Myelodysplastic syndrome various

P415-COL7A1-KRT5 improved Epidermolysis Bullosa Hereditaria 3p21.31 COL7A1, 12q13.13 KRT5

P416-KRT14-LAMA3-LAMB3-LAMC2 Epidermolysis Bullosa Hereditaria 17q21.2 KRT14; 18q11.2 LAMA3; 1q32.2 LAMB3; 1q25.3 LAMC2

P417-BAP1 Melanocytic tumours, mesothelioma BAP1, 3p21.1

P418-MYH7 Hypertrophic cardiomyopathy MYH7 14q11.2

P419-CDKN2A/2B-CDK4 Familial melanoma CDKN2A, CDKN2B, CDK4, MITF E318K

P425-Multiple Myeloma Multiple Myeloma various

P426-Cystinuria Cystinuria SLC3A1, 2p12 and SLC7A9

P427-PDHA1 Leigh Syndrome X-chromosome

P429-SDHA-MAX Paraganglioma and pheochromocytoma 5p15.3 and 14q23.3

P430-PLCG2 Cold-induced urticaria 16q23

P431-FOXF1 Alveolar capillary dysplasia 2p24.3 (MYCN) and 16q24.1 (FOXF1; FOXC2; FOXL1)

P432-MYH9 Macrothrombocytopenia 22q12.3

P433-ARID1A-ARID1B Neuroblastoma, ovarian cancer + various other tumour ARID1A, ARID1B types + mental retardation

P434-Heterotaxy Heterotaxy syndrome ZIC3 Xq26.3, CFC1 2q21.1, ACVR2B 3p22.2, NODAL 10q22.1

P435-FLNB Atelosteogenesis, Boomerang dysplasia, AD Larsen 3p14.3 FLNB Syndrome

P436-ANO5 Limb-girdle muscular dystrophy ANO5 gene

P437-Familial MDS-AML Familial MDS-AML RUNX1, CEBPA, GATA2, TERT, TERC

P438-HLA Celiac Disease, HLA-DQ2.5 HLA-DQ8 HLA-DQ2.2 6p21.32

P439-COL4A3 improved Alport Syndrome 02q36.3

P440-F10 + F11 Factor X deficiency; Rosenthal syndrome 4q35.2 & 13q34

P441-SACS ARSACS (autosomal recessive spastic ataxia of 3q12.12 Charlevoix-Saguenay)

P443-KANSL1 KANSL1 copy number 17q21.31

P444-COL4A4 Alport Syndrome 2q36.3

P445-KDM6A Kabuki Syndrome Type 2 (KS2) Xp11.3

P446-GALC Krabbe Disease 14q31.3

P447-HPRT1 Lesch-Nyhan syndrome Xq26.1

P448-PARD3 PARD3 10p11.21-p11.22

P452-PLS3 Osteogenesis imperfecta Xq23

P453-GAA Pompe Disease 17q25.3

P454-CGD Chronic Granulomatous Disease Xp21.1; 1q25.3; 16q24.3; 22q13.1

P455-LZTR1 Schwannomatosis 22q11.21

P456-EVC EVC2 Ellis-van Creveld syndrome 4p16.2

P457-DHCR7 Smith–Lemli–Opitz syndrome 11q13

P458-Gastric cancer Gastric cancer various

P459-SERPINA1 Alpha-1-antitrypsin (AAT)-deficiency 14q32.13

P460-SMA basic research Spinal muscular Athrophy 5q13.2

P461-DIS Deafness Infertility Syndrome (DIS); non-syndromic 15q15.3; 16p12.2 hearing loss

P462-Follicular Lymphoma Follicular lymphoma Various

P463-MRKH Mayer-Rokitansky-Küster-Hauser Syndrome 16p11.2; 17q12; 22q11.21

P465-ACADM Medium-chain acyl-CoA dehydrogenase (MCAD) 01p31.1 deficiency

P466-CDC73 HPT jaw tumour syndrome, famial hyperparathyroidism, CDC73 parathyroid carcinoma

P469-F5 Factor V deficiency F5 1q24.2

P470-NCL Neuronal Ceroid Lipofuscinoses/Batten Disease 01p34.2, 08p23.3, 11p15.4, 15q23, 16p11.2

P471-EOFAD Early-Onset Familial Alzheimer's Disease (EOFAD) 01q42.13; 14q24.2; 21q21.3

P472-SUFU new Familial Medulloblastoma and Meningioma 10q24.32

P473-CTNS (Nephropathic) Cystinosis 17p13.2