docdna laboratuvarlari mlpa test li̇stesi̇
download 
Şikayet Transkript
dna laboratuvarlari mlpa test li̇stesi̇
DNA LABORATUVARLARI MLPA TEST LİSTESİ Test Kodu Gen Hastalık DL MG 46 1p36 1p36 deletion syndrome DL MG 47 BCL2L1, SRC, MYBL2, PTPN1, ZNF217, BCAS1, GNAS 20q DL MG 48 22q11 22q11 DL MG 49 MCCC1 3q27, MCCC2 5q12 3-methylcrotonylglycinuria I and II DL MG 50 BTK Xq21.3-q22 Agammaglobulinemia DL MG 51 CFH, CFHR3, CFHR1, CFHR2, 1q23 Age-related macular degeneration (ARMD) DL MG 52 JAG1 20p12.2 Alagille Syndrome (AGS) DL MG 53 GNAS 20q13.32 Albright hereditary osteodystrophy (AHO), Pseudohypoparathyroidism (PHP) DL MG 54 COL4A5 Xq22 Alport syndrome, Hereditary Nephritis DL MG 55 APP 21q21.3 Alzheimer disease, early-onset DL MG 56 PSEN1 14q24.2 Alzheimer's disease (AD) DL MG 57 MAPT 17q21 Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy DL MG 58 GAB2 11q14, MET 7q31 Alzheimer's disease, late-oneset (LOAD), Papillary renal carcinoma DL MG 59 AR Xq12 Androgen insensitivity syndrome (AIS) DL MG 60 SerpinC1 1q25.1 Antithrombin (III) deficiency DL MG 61 TGFBR1 9q22, TGFBR2 3p22 Aortic aneurysm syndrome DL MG 62 Various Apoptosis mRNA DL MG 63 DSP 6p24, PKP2 12q11.21 Arrhythmogenic right ventricular cardiomyopathy (ARVC) DL MG 64 ATM 11q23 Ataxia-Telangiectasia (AT) DL MG 65 ATM 11q23 Ataxia-Telangiectasia (AT) DL MG 66 15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13 Autism DL MG 67 FGF10 5p13, FGFR2 10q26 Autosomal dominant lacrimoauriculodentodigital (LADD) DL MG 68 CLCNKB 1p36 Bartter syndrome DL MG 69 11p15 region, H19, IGF2, CDKN1C, KCNQ1 Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS) DL MG 70 KCNQ2 20q13.33 Benign familial neonatal convulsion (BFNC) DL MG 71 FLCN 17p11, Smith-Magenis syndrome region Birt-Hogg-Dube syndrome DL MG 72 EYA1 8q13.3. Branchio-oto-renal dysplasia syndrome (BOR) DL MG 73 BRCA1 region Breast cancer DL MG 74 CHEK2 22q12, ATM , PTEN, TP53 Breast cancer suspectibility DL MG 75 BRCA2 13q12.3 Breast cancer, hereditary DL MG 76 BRCA2 Breast cancer, hereditary DL MG 77 BRCA1 Breast cancer, hereditary DL MG 78 BRCA2, CHEK2 Breast cancer, hereditary DL MG 79 BRCA1, 17q21 Breast cancer, hereditary DL MG 80 ERBB2, BIRC5, MYC, TOP2A, ESR1, MTDH, CCND1, CCNE1, EGFR and C11orf30 Breast tumour DL MG 81 All subtelomeres Broad subtelomere screening DL MG 82 All subtelomeres Broad subtelomeric screening DL MG 83 All subtelomeres Broad subtelomeric screening DL MG 84 SCN5A 3p22 Brugada / long QT DL MG 85 CDH1 16q22.1 CDH1 or E-cadherin DL MG 86 ASPA, 17p13 Canavan disease DL MG 87 PTEN 10q23 Cancer DL MG 88 ERBB2 (HER2-NEU) 17q21.1 Cancer DL MG 89 BRIP1 17q22, CHEK1 11q22 Cancer DL MG 90 ERBB2 (HER2-NEU) 17q21.1 Cancer DL MG 91 GATA4 8p23, GATA3 10p15 Cardiac septal defects DL MG 92 Centromeres Centromeric screening DL MG 93 CCM 7q21 Cerebral carvernous malformations (CCM) DL MG 94 CCM 7q21 Cerebral carvernous malformations (CCM) DL MG 95 GJB1 Xq13.1 Charcot Marie Tooth disease, x-linked DL MG 96 CMT1/HNPP region, 17p11.2 Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP) DL MG 97 MFN2 1p36.2, MPZ 1q22 Charcot-Marie-Tooth disease (CMT2A/1B) DL MG 98 CHD7 8q12.2 Charge syndrome DL MG 99 Various Chronic Lymphocytic Leukemia (CLL) DL MG 100 GALT 9p13 Classic galactosemia DL MG 101 RPS6KA3 Xp22.2-p22.1, PQBP1 Xq11.2 Coffin-Lowry Syndrome (CLS) DL MG 102 MLH1 3p21.3, MSH2 2p21 Colon cancer, hereditary non-polyposis (HNPCC) DL MG 103 GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25 Congenital Heart Disease (CHD) DL MG 104 CYP21A2 6p21.3 Congenital adrenal hyperplasia DL MG 105 KCNQ1 11p15.5, KCNH2 7q35 Congenital long QT syndrome (LQT) DL MG 106 Xq26 (NYS1 locus), FRMD7 Congenital nystagmus DL MG 107 NIPBL 5q13.1 Cornelia de Lange syndrome (CDLS) DL MG 108 FGFRs, TWIST, MSX2, ALX4, RUNX2 Craniofacial disorders DL MG 109 SLC6A8, Xq28 Creatine transporter, x-linked DL MG 110 CFTR 7q31.2 Cystic Fibrosis DL MG 111 CYP2D6, CYP2C9, CYP2C19, CYP1B1, CYP3A4, CYP3A5, CYP2E1, CYP1A1, CYP1A2, CYP2A6, CYP2B6, GSTP1, GSTT1 and GSTM1 Cytochrome P-450 DL MG 112 ZIC1, ZIC4 3p2, VLDLR 9p24 Dandy-Walker Malformation (DWM) DL MG 113 DEF, 8q22, 8q23, Defensin DL MG 114 22q11 DiGeorge syndrome DL MG 115 22q11 DiGeorge syndrome, Velocardiofacial syndrome (VCFS, Cat eye syndrome (CES) DL MG 116 RPS19 19q13.2, 8p23 Diamond-Blackfan anemia (DBA) DL MG 117 DPYD 1p22 Dihydropyrimidine dehydrogenase (DPYD) deficiency DL MG 118 IGHMBP2 11q13 Distal spinal muscular atrophy 1 (DSMA1), SMARD1, dHMN6 DL MG 119 TH 11p15.5, GCH114q22, SGCE 7q21 Dopa-responsive dystonia, Segawa disease; Myoclonusdystonia syndrome DL MG 120 Chr. 13, 18, 21, X, Y Down syndrome, Edwards syndrome, Patau syndrome DL MG 121 ABCB4 7q21,1 Drug-transport pump DL MG 122 DMD, Xp21.2 Duchene Muscular Dystrophy (DMD) DL MG 123 DKC1 Xq28 Dyskeratosis congenita (DC) DL MG 124 DCDC2 6p22, ROBO1 3q12, ROBO2 3q12, NRSN1 6p22 Dyslexia DL MG 125 EDA Xq12-q13.1 Ectodermal dysplasia, x-linked (XLHED) DL MG 126 SCN1a 2q24.3 Epilepsy DL MG 127 CACNA1A Episodic ataxia 2, Familial hemiplegic migraine DL MG 128 FCFR FCFR DL MG 129 GLA Xq22 Fabry Disease DL MG 130 FGD1 Xp11.21 Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome DL MG 131 F9 Xq27.1 Factor IX deficiency, Christmas disease DL MG 132 FANCA 16q24.3 Fanconi Anemia (FA) DL MG 133 FANCD2. 3p25.3, PALB2 16p12 Fanconi anemia (FA) DL MG 134 FANCB Xp22 Fanconi anemia complementation group B DL MG 135 FMR1, AFF2 Fragile X DL MG 136 ALDOB 9q21 Fructose intolerance DL MG 137 FH 1q43 Fumarase deficiency DL MG 138 SLC12A3 16q13 Gitelman syndrome DL MG 139 SLC2A1 1p34.2 Glut1 deficiency syndrome DL MG 140 GLDC 9p22 Glycine encephalopathy DL MG 141 PTCH 9q22.3 Gorlin syndrome DL MG 142 GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3 Growth Hormone Deficiency (GHD) DL MG 143 GHR 5p12, JAK2 9q24.1, IGF1 12q23, STAT5B 17q21 Growth Hormone Insensitivity (GHI) DL MG 144 PKLR 1q22 Haemolytic Anaemia, hereditary non-spherocytic DL MG 145 FVIII Xq28 Haemophilia A, x-linked DL MG 146 GJB 1p35.1 (connexin 31), WFS1 4p16.1 (Wolframin) Hearing loss DL MG 147 CFH 4q25 Hemolytic uremic syndrome, typical (aHUS) DL MG 148 ENG 9q34.1, ALK1 12q13.13, BMPR2 2q33.3 Hemorrhagic telangiectasia, hereditary (HHT), Primary pulmonary hypertension (PPH1) DL MG 149 PRSS1 7q34, SPINK1 5q32 Hereditary Pancreatitis (HP) DL MG 150 APC, 5q21-q22 Hereditary Polyposis Colon Cancer DL MG 151 SPAST 2p22, NIPA1 15q11 Hereditary Spastic Paraplegias (HSPs) region DL MG 152 SERPING1 11q12.1 Hereditary angioedema (HAE) DL MG 153 MSH6 2p16, PMS2 7p22 Hereditary nonpolyposis colon cancer (HNPCC) DL MG 154 MLH1 3p21.3, MSH2 2p22 Hereditary nonpolyposis colon cancer (HNPCC) DL MG 155 MSH6 2p16 Hereditary nonpolyposis colon cancer (HNPCC) DL MG 156 SPG11 or KIAA1840 15q21.1 Hereditary spastic paraplegia (HSP or SPG) DL MG 157 REEP1 (SPG31) 2p11.2, SPG7 16q24.3 Hereditary spastic paraplegias (HSPs) DL MG 158 RET 10q11.2, ZFHX1B 2q22.3, EDN3 20q13.3 and GDNF 5q13.2 Hirschsprung disease, or Aganglionic Megacolon DL MG 159 PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 Holoprosencephaly (HPE) DL MG 160 LDLR 19p13.2 Hypercholesterolemia, familial DL MG 161 ABCC8 11p15.1 Hyperinsulinemic hypoglycemia, familial (HHF1) DL MG 162 TNNT2 1q32 Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy DL MG 163 MYBPC3 11p11.2 Hypertrophic cardiomyopathy, familial DL MG 164 CASR 3q13 Hypocalciuric Hypercalcemia, familial DL MG 165 PHEX Xp22.2, FGF23 12p13 Hypophosphatemia, x-linked DL MG 166 SHOX-Xp22 Idiopathic growth retardation DL MG 167 Various Inflammation mRNA DL MG 168 IGFR1 15q26, IGFBP3 7p13 Insulin-like growth factor 1 receptor (IGF1R) DL MG 169 BMPR1A 10q22, SMAD4 18q21, PTEN Juvenile polyposis syndrome (JPS) DL MG 170 FGFR1 8p11.2, GNRHR 8p21, KISSR1 19p13.3 , GNRH1, NELF 9q34.3 Kallmann syndrome DL MG 171 KAL1 Xp22 Kallmann syndrome, x-linked DL MG 172 LPL 8p21.3 LPL deficiency DL MG 173 LMNA 1q21.2-1q21.3 Laminopathies, Limb-girdle muscular dystrophy, Myofibrillar myopathies DL MG 174 AIPL1 17p13, CRB1 1q31, CRX 19q13, RPE65 1p31 Leber congenital amaurosis (LCA) DL MG 175 GUCY2D 17p13.1, RDH12 14q24, RPGRIP1 14q11, CEP290 12q21 Leber congenital amaurosis (LCA) DL MG 176 LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 Leukodystrophy DL MG 177 P53 17q13.1 Li-Fraumeni syndrome (LFS) DL MG 178 DYSF 2p13 Limb girdle muscular dystrophies (LGMD) DL MG 179 CAPN3 15q15.1 Limb girdle muscular dystrophy 2A (LGMD2A) DL MG 180 GLI3 7p13, HOXD13 2q31, ROR2 9q22 Limb malformations DL MG 181 SALL1 16q12, SALL4 20q13, TBX5 12q24 Limb malformations, heart DL MG 182 SGCA, SGCB, SGCD, SGCG, FKRP Limb-girdle muscular dystrophy (LGMD) DL MG 183 LIS1, DCX, POMT1, POMGnT1, FLNA Lissencephaly DL MG 184 SH2D1A Xq25 Lymphoproliferative syndrome, x-linked (XLP). Duncan disease DL MG 185 OPA1 3q28, VMD2 11q13, RDS 6p21.2 Macular dystrophy DL MG 186 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome DL MG 187 FBN1 15q21.1 Marfan syndrome DL MG 188 HNF4A 20q13, GCK 7p13, HNF1A 12q24, IPF1 13q12, HNF1B 17q12, NEUROD1 2q31 Maturity-Onset Diabetes of the Young (MODY) DL MG 189 MEFV 16p13.3 Mediterranean fever, familial (MEFV) DL MG 190 ATP7A Xq13.3 Menkes disease DL MG 191 Various Mental Retardation; 1p-deletion, Williams, Smith- Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, SaethreChotzen, Sotos DL MG 192 Various Mental retardation, Wolf-Hirschlorn, Cri du Chat, LangerGiedon, WAGR, Rubinstein-Taybi, Down, Kabuki DL MG 193 Chromosome X Mental retardation, x-linked (XLMR) DL MG 194 2p16, Langer Giedion, 9q22, WAGR, 15q24, 17q21 Microdeletion follow-up DL MG 195 7q11, PWS/AS, Miller-Dieker, Smith-Magenis, RETT Microdeletion follow-up DL MG 196 1p36, 3q29, Wolf-Hirschlorn, Cri du Chat, Phelan-McDermid Microdeletion follow-up DL MG 197 Sotos, DiGeorge, Rubinstein- Taybi, NF1 Microdeletion follow-up DL MG 198 Various Microdeletion syndromes DL MG 199 Various Microdeletion syndromes DL MG 200 MLH1, MSH2, MSH6, MLH3, MSH3 Mismatch repair genes (MMR) DL MG 201 HMGSC2 1p13 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHMGS) DL MG 202 Mitochondria Mitochondrial DNA (mtDNA) DL MG 203 Various Mouse apoptosis mRNA DL MG 204 IDS Xq28 Mucopolysaccharidosis type II, or Hunter syndrome DL MG 205 EXT1 8q24, EXT2 11p12 Multiple Osteochondromas DL MG 206 MEN1 11q13 Multiple endocrine neoplasia DL MG 207 AIP 11q13, MEN1 11q13 Multiple endocrine neoplasia (MEN) DL MG 208 Chr. 5, 7, 8, 11, 12, 17, 20, 21 Myelodysplastic syndrome (MDS) DL MG 209 MTM1 Xq28, MTMR1 Xq28 Myotubular myopathy, x-linked (XLMTM) DL MG 210 LMX1B 9q33 Nail patella syndrome (NPS) DL MG 211 KCNQ3 8q24.22 Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2) DL MG 212 Chromosomes 4, 7, 9, 12, 14 Neuroblastoma DL MG 213 1p36, 3p22/3p21.3 and 11q23 Neuroblastoma DL MG 214 2p24.1/MYCN, 2q33, 17p13/TP53, 17q Neuroblastoma DL MG 215 PANK2 20q13, PLA2G6 22q13 Neurodegeneration with brain iron accumulation (NBIA) DL MG 216 NOS1 12q24 Neurodegenerative diseases DL MG 217 NF1 17q11.2 Neurofibromatosis DL MG 218 NF2 22q12 Neurofibromatosis type 2 (NF2) DL MG 219 ASPA, MLC1, MLYCD, D2HGDH, L2HGDH Neurometabolic disorders DL MG 220 NPC1, NPC2 Niemann-Pick type C disease (NPC) DL MG 221 MID1 Xp22 OPITZ syndrome DL MG 222 LEPR, POMC, LEP, SIM1, MC3R, MC4R Obesity DL MG 223 PPARG 3p25.1 Obesity, Diabetes mellitis type II, Familial partial lipodystrophy III, Colon cancer DL MG 224 PAX6 11p13, SOX2 3q26, WT1, 11p13 Ocular malformations, hereditary DL MG 225 1p, 19q Oligodendroglioma DL MG 226 EGFR, TP53, PTEN, CDKN2A, ERBB2 Oligodendroglioma DL MG 227 FOXL2 , TWIST1, FOXC1, FOXC2, ATR, PITX2, GPR143 Ophthalmogenetic anomalies DL MG 228 OTC Xp21.1 Ornithine cabamoyltransferase (OTC) DL MG 229 COL1A1 17q21.3 Osteogenesis imperfecta (OI) DL MG 230 PROS1 3q11.2 PROS1 deficiency DL MG 231 SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3 Paragangliomas (PGL) DL MG 232 PARK2 6q25.2, SNCA 4q21, Pink1, Park7 1p36 Parkinson disease, familial DL MG 233 PARK2 6q25.2, UCHL1 4p14, GCH1 14q22.1, LRRK2 12q12 Parkinson disease, familial DL MG 234 PLP1 Xq22 Pelizaeus-Merzbacher disease (PMD) DL MG 235 SLC26A4 7q31 Pendred syndrome DL MG 236 STK11 19p13.3 Peutz-jeghers syndrome (PJS) DL MG 237 22q13.3, SHANK3, ACR, RABL2B Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3 DL MG 238 PAH 12q24.1 Phenylketonuria DL MG 239 PKHD1 Polycystic kidney disease, autosomal recessive (ARPKD) DL MG 240 PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2 Prader Willi syndrome (PWS), Angelman syndrome (AS) DL MG 241 Various Prenatal microdeletion screening DL MG 242 DNAI1 9p21 Primary ciliary dyskinesia (PCD) DL MG 243 DNAH5 5p15 Primary ciliary dyskinesia (PCD) DL MG 244 PCCA 13q32 Propionic acidemia DL MG 245 PROC 2q14.3 Protein C deficiency (PROC) DL MG 246 ABCC6 16p13.1 Pseudoxanthoma elasticum DL MG 247 MECP2, Xq28 RETT syndrome DL MG 248 SETX 9p34.13, APTX 9p13.3, FXN 9p13 Recessive Ataxias DL MG 249 Various Repair genes DL MG 250 RHO 3q21.3, RP1 8q11.2, IMPDH1 7q32, PRPF31 19q13.4 Retinitis Pigmentosa DL MG 251 RB1 13q14 Retinoblastoma (RB) DL MG 252 CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1 Rett syndrome, atypcial DL MG 253 RHD 1p36.2-1p34 Rh blood group antigens DL MG 254 SMARCB1 22q11.2 Rhabdoid tumors DL MG 255 CREBBP 16p13.3 Rubinstein–Taybi syndrome (RSTS) DL MG 256 EP300 Rubinstein–Taybi syndrome (RSTS) DL MG 257 SOX9 17q24.3, NR5A1 9p33, WNT4 1p36.12, NROB1 Xp21.2 Sex determination DL MG 258 GPC3, GPC4, Xq26 Simpson-Golabi-Behmel syndrome (SGBS) DL MG 259 COL2A1 12q13.11-q13.2 Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal DL MG 260 NSD1, 5q35 Sotos syndrome DL MG 261 SPG3A 14q21, SPAST 2p22 Spastic paraplegia, hereditary (HSP) DL MG 262 SMN1, SMN2, 5q13 Spinal Muscular Atrophy (SMA) DL MG 264 ABCA4 (ABCR) 1p22.1 Stargardt, Macular dystrophy, Retinitis pigmentosa, agerelated macular degeneration DL MG 265 ABCA4 (ABCR) 1p22.1 Stargardt, Macular dystrophy, Retinitis pigmentosa, agerelated macular degeneration DL MG 266 GLRB 4q32.1, GLRA1 5q33.1, SLC6A5 11p15.1 Startle disease, Hyperekplexia DL MG 267 STS Xp22 Steroid Sulfatase gene (STS) DL MG 268 2p, 3p, 6p, 8p Subtelomere screening DL MG 269 9q, 10q, 11q, 12q Subtelomeric screening DL MG 270 13q, 14q, 15q, 16q Subtelomeric screening DL MG 271 5q, 6q, 7q, 8q Subtelomeric screening DL MG 272 17p, 18p, 19p, 20p Subtelomeric screening DL MG 273 1q, 2q, 3q, 4q Subtelomeric screening DL MG 274 9p, 10p, 11p, 12p Subtelomeric screeninig DL MG 275 Reference probes + control fragments Synthetic 'home-made' probes DL MG 276 Reference probes + control fragments Synthetic 'home-made' probes DL MG 277 Mouse reference probes + control fragments Synthetic 'home-made' probes DL MG 278 HEXA 15q23 Tay-sachs disease DL MG 279 HBB 11p15.5 Thalassemia, beta-zero DL MG 280 HBA 16p Thalassemisas, Alpha DL MG 281 COL3A1 2q31, TNXB 6p21.3. The Ehlers-Danlos syndrome type III (EDS III) DL MG 282 TPMT 6p22, DPYD 1p22 Thiopurine S-methyltransferase (TPMT; S-adenosyl-Lmethionine:thiopurine S-methyltransferase) DL MG 283 TRPS1 8q24 Trichorhinophalangeal syndrome type I (TRPS1), LangerGiedion syndrome (LGS) DL MG 284 TSC1 9q34 Tuberous Sclerosis DL MG 285 TSC2 16p13.3 Tuberous Sclerosis DL MG 286 RBM14, 11q13 Tumour analysis DL MG 287 various Tumour research DL MG 288 Chromosome 8 Tumour research DL MG 289 Various Tumour suppressor genes DL MG 290 various genes Tumours DL MG 291 9p21, CDKN2A, CDKNA2B Tumours, Cutaneous melanoma DL MG 292 EGFR 7p11 Tumours, solid DL MG 293 PCDH15 10q21.1 Usher syndrome DL MG 294 1p, 3, 6p, 8q (MYC region) Uveal Melanoma DL MG 295 IRF6 1q32.2 Van der Woude syndrome (VWS) DL MG 296 VHL, 3p25 Von Hippel-Lindau Syndrome DL MG 297 PAX3 2q35, MITF 3p14 Waardenburg syndrome (WS) type II, WS1, WS3 DL MG 298 LARGE, FKTN, POMT2 Walter Wahlberg Syndrome DL MG 299 WBS criticial region 7q11.23 Williams-Beuren syndrome DL MG 300 WT1 11p13 Wilms tumours, WAGR, Denys-Drash, Frasier syndrome. DL MG 301 ATP7B 13q14.3 Wilson disease