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Various syndromes / diseases Click on the text to view the MLPA kit description.
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MLPA mix P214 P210 P184 P191/P192 P254 P170 P219 P227 P148 P099 P168 P189 P041/P042 P153 P108 P025 P130/P131 P033 P129 P201 P156 P143 P259 P050 P114 P141/P142 P080 P091 P163 P139 P224 P212 P023 P250 P103 P034/P035 P150 P155 P197 P159 P232 P207 P031/P032 P113 P057 P255 P198 P136 P138 P209 P217 P216 P262 P178 P243 P165 P213 P211 P169 P187 P164 P062 P117 P100 P196 P177 P160 P018 P185 P132 P133 P231 P221 P222 P061 P179 P180 P176 P048 P109 P218 P229 P065/P066 P094 P104 P064 P096 P106 P068 P125 P241 P147 PM200 P017 P244 P215 P137 P275 P107 P224 P220 P054 P233 P079 P093 P271/P272 P242 ME028 P112 P092 P051/P052B P022 P055 P244 P203 P235 P115 P015 P189 P119 P154 P026 P021 P060 P151/P152 P274 P199 P102 P140 P228 P046 P124 P186 P029 P098 P049 P183 P223 P205
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Chromosomal area 12q13.11 Xq22 chr. 20 Xp22 14q24.2 21q21.3 11p13 1q25.1 9q22; 3p22 14q22 12p11.21 Xp22, 1p13.3 11q23 8q13.3 3p22 17pter-p13 7q21; 7p13; 3q26.1 17p11.2 GJB1 8q12.2 9p13 1q22 RPS6KA3 6p21.3 11p15.5 5p13.1 7p21; 5q35.2; 11p11.2 7q31.2 1p35, 13q11 8p22-23 3p25.1 8p23 22q11 22q11 1p22 Xp21.2 6p22 16p21.3 8q24.22 Xq22 Xp11 Xq27.1 16q24.3 Xp22 FANCD2, PALB2 9q21 1q43 16q13 01p34.2 9p22 15q26 GH1,PROP1,POU1F1,GHRHR, HESX1, LHX3/4 GHR,IGF1,JAK2,STAT5B Xq28 11q12.1 2p22 REEP1, SPG7 Flanking SPAST, 15q 2q22.3; 5p13.2; 10q11.21; 20q13.32 7q36, 2p21, 18p11.3 Xq28 19p13.3 11p15.1 11p11.2 1q32 3q13 Xp22 Xp22.3 Xp21.3; 17q24.3; 1p35 Xp22 19p13.3 5p13; 10q26 AIPL1,CRB1,CRX,RPE65 GUCY2D,RDH12,RPGRIP1 17p13.3; Xq23 2q31, 7p13, 9q22 12q24, 16q12, 20q13 15q15.1 1q21.2-q21.3 07q21.1 8p21.3 3q28-q30 15q21.1 16p13.3 Xq13.3 07q11.23; 17p11; 17p13 4p, 5p, 11p, 8p Xp22.1; Xq12; 23; 28 1p13-p12 MITO DNA NF4A, GCK, TCF1/2 01p36.33 control probes only 11q13 11q13 8q24 2q24.3 MAPT MLC1,L2HGDH,D2HGDH LEP, LEPR, POMC etc. 3p25.1 7p21; 6p25; 16q24.3 Xp22; MID1 Xp21.1 9q34.1; 12q13.13. 17q21.33; 7q21 7q34, 5q32 15q11-q13 3q11.2 16p13.1 6q26 Xq22 12q23 11q13 1q22 3q21-q24 8q11-13 Xq28 Xp22, 1p13.3 RHD Xq26 5q35 5q13 5q13 1p22.1 SLC6A5, GLRB, GLRA1 15q23 11p15.5 16p13.3 TRPS1 16p13.3 9q34 PAX3, MITF 7q11.23 13q14.3 Xq28 Xq12-q13.1 Xp22.2 Xq25
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Known Syndromes / Diseases Achondrogenesis Agammaglobulinemia Alagille Syndrome Alport syndrome Alzheimer's disease Alzheimer early-onset Aniridia Antithrombin (III) deficiency Aortic aneurysm syndrome a.d. Dopa-responsive dystonia Arrhythmogenic right ventricular cardiomyopathy (ARVC) Atypical Rett syndrome Ataxia telangiectasia (ATM) Branchio-oto-renal dysplasia syndrome (BOR) Brugada / long QT Canavan Cerebral Carvenous Malformations Charcot-Marie Tooth (CMT) Charcot Marie Tooth, X-linked CHARGE Classic galactosemia CMT2A/1B Coffin-Lowry Congential Adrenal Hyperplasia Congenital long QT syndrome Cornelia de Lange syndrome Craniofacial disorders Cystic Fibrosis (CFTR) Deafness, Neurosensory, autosomal recessive 1 Defensin Diabetes Mellitis Diamond-Blackfan anemia (DBA) DiGeorge/Velocardiofacial/Cat eye DiGeorge/Velocardiofacial/Cat eye DPYD deficiency Duchenne/Becker Dyslexia Ehlers-Danlos syndrome type III Epilepsy Fabry Disease Faciogenital dysplasia Factor IX Deficiency Fanconi Anemia Fanconi Anemia Group B Fanconi anemia Fructose intolerance Fumarase Deficiency Gitelman syndrome GLUT1 deficiency syndrome Glycine encephalopathy Growth failure Growth Hormone Deficiency (GHD) Growth Hormone Insensitivity Haemophilia A Hereditary angioedema (HAE) Hereditary spastic paraplegia Hereditary spastic paraplegia Hereditary spastic paraplegia region Hirschsprung Holopresencephaly Hunter syndrome Hypercholesterolemia (LDLR) Hyperinsulinemic hypoglycemia (HHF1) Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypocalciuric hypercalcemia Ichthyosis x-linked Idiopathic growth retardation (SHOX) Intersex Kallmann-1 Kallmann-2 Lacrimoauriculodentodigital (LADD) Leber congenital amaurosis (LCA) Leber congenital amaurosis (LCA) Lissencenphaly Limb malformations-1 Limb malformations-2 / Heart Limb girdle muscular dystrophies (LGMD) LMNA (several syndromes) LPAC syndrome (ABCB4 gene) LPL deficiency Macular Dystrophy Marfan Syndrome MEFV Menkes Disease Mental retardation syndromes 1 Mental retardation syndromes 2 Mental retardation X-Linked mHMGS deficiency Mitochondrien MODY Monosomy 1p36 MOUSE control probemix Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia/PAP Multiple osteochondromas Myoclonic epilepsy Neurodegenerative disorders Neurometabolic disorders Obesity Obesity Ophthalmogenetic Anomalies OPITZ syndrome, x-linked Ornithine cabamoyltransferase (OTC) Osler-Weber-Rendu Syndrome (HHT) Osteogenesis imperfecta (OI) Pancreatitis Prader-Willi / Angelman syndrome PROS1 deficienty Pseudoxanthoma elasticum Parkinson (Familial) Pelizaeus-Merzbacher Disease Phenylketonuria (PAH) Pituitary Adenoma Predisposition (PAP) Pyruvate kinase (PK) deficiency Retinitis Pigmentosa (RP) Retinitis Pigmentosa (RP) RETT Syndrome RETT-like Syndrome (Atypical Rett) RHD Simpson-Golabi-Behmel syndrome Sotos Syndrome Spinal Muscular Atrophy (SMA) Spinal Muscular Atrophy (SMA) Carrier Stargardt macular dystrophy (ABCA4) Startle disease - Hyperekplexia Tay-Sachs disease Thalassemia Thalassemia Trichorhinophalangeal syndrome type I Tuberous Sclerosis TSC2 Tuberous Sclerosis TSC1 Waardenburg syndrome (WS) Williams-Beuren Syndrome Wilson disease X-linked creatine transporter X-linked hypohidrotic ectodermal dysplasia X-linked hypophosphatemia X-linked lymphoproliferative syndrome
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