Es el microarray de hibridación genómica comparativa de alta resolución, diseñado específicamente para genética clínica y citogenética.

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2 CytoArray Es el microarray de hibridación genómica comparativa de alta resolución, diseñado específicamente para genética clínica y citogenética. Detecta alteraciones en el número de copias de ADN, en pacientes con retraso mental idiopático, autismo y alteraciones congénitas. Permite definir si el paciente sufre una enfermedad o síndrome derivados de la presencia de de deleciones o amplificaciones en las regiones definidas (ver listado de síndromes que se adjunta). Cytoarray, con sus más de cien mil sondas, ha sido especialmente desarrollado para dar cobertura a numerosos síndromes citogenéticos y detección precisa de microdeleciones y microduplicaciones, superando así a técnicas como el FISH. Cytoarray permite detectar: Aneuploidias. Más de 200 síndromes (una sonda cada 3 kb, 33 sondas/gen). 410 genes asociados con autismo, retraso mental, cardiopatías congénitas y enfermedades oculares. Bandas subteloméricas (una sonda cada 40 kb). En definitiva una potente herramienta diagnóstica que permite obtener mayor información que los métodos tradicionales para un diagnóstico más preciso.

3 1p36 Microdeletion 1p q32.2 Micordeletion 2q33.1-q q37.3 Monosomy 2q37.3 3q29 Microdeletion 3q p25.3 Microdeletion 6p p23.1 Microdeletion 8p p23.1 Microdeuplication 8p23.1 9q22.32-q22.33 / Loeys-Dietz Microdeletion 9q q34.3 Microdeletion 9q q34.3 Microdeletion (severe) 9q q22-23 Microdeletion 10q23.1-q q14 Microdeletion 11q q23 Jacobsen Deletion Syndrome 11q23.3-q q14 Deletion 13q14.2-q q22 Microdeletion 14q22.2-q q13.3 Microdeletion 15q q15.3 Infertility and Deafness 15q q24 Microdeletion 15q p11.2 Deletion 16p p11.2-p12.2 Microdeletion 16p11.2-p p13.1 Microdeletion predisposition to Autism 16p q21.31 Microdeletion 17q q21.31 Microduplication 17q q11.2 Microduplication 22q q13 Microdeletion (Phelan McDermid syndrome) 22q Abnormal growth 15q Adrenal hypoplasia congenita Xp Adult-onset autosomal dominant leukodystrophy 5q Alagille Syndrome 20p Albright hereditary osteodystrophy 20q Alpha thalassemia mental retardation 16p Alport syndrome (X) Xq Angelman 15q Aniridia 11p13-p Atrial septal defect (ASD) with atrioventricular conduction defects 5q35.1-q Autism genes AZFa Yq AZFb (azoospermia factor b) Yq q AZFb + AZFc Yq Bartter 1 15q Bartter 2 11q Bartter 3 1p Bartter 4 1p Beckwith-Wiedemann 11p15.4-p Bilateral frontoparietal polymicrogyria 16q Blepharophimosis 3q Branchio-Oto-Renal Syndrome 8q CADASIL 19p Campomelic dysplasia 17q Canavan 17p Cat-eye 22q

4 Cerebral Carvernous Malformations (CCM) 3q Cerebral Carvernous Malformations (CCM) 7p Cerebral Carvernous Malformations (CCM) 7q Charcot-Marie Tooth Disease 17p11.2-p CHARGE syndrome 8q Cleidocranial dysplasia 6p Congenital adrenal hyperplasia (CAH) 6p Congenital diaphragmatic hernia 15q26.1-q Congental heart disease genes Cornelia de Lange 5p Cowden 10q23.2-q Craniosynostosis SOX6 11p15.1-p Craniosynostosis type2 5q Cri-du-Chat 5p15.2-p Currarino 7q Cystic Fibrosis 7q Cystinosis 17p Cystinuria with mitochondrial disease 2p Cystinuria 19q Dandy-Walker Syndrome 3q DCX-Associated Lissencephaly/Subcortical Band Heterotopia Xq22.3-q Deafness-Dystonis-Optic Neuronopathy Xq DiGeorge / VCF 22q DiGeorge Duplication DiGeorge 2 10p DMD Xp21.1-p Dopa resistant dystonia / Parkinsons 14q22.2-q22.3 Down Syndrome Critical Region 21q Emery-Dreifuss muscular dystrophy Xq Eye disorder genes Fanconi Anemia 3p Feingold 2q FLNA-Related Disorders Xq FMR1 Microdeletion Xq FMR2 Microdeletion Xq Fryns 1q41 1q Gardner 5q Glucose Transport defect 1p Glycerol kinase Xp Greig cephalopolysyndactyly 7p Hereditary hemorrhagic teangiectasia 9q Hereditary non-polyposis colon cancer 2p Hirschsprung Disease Plus 2q HNPP 17p11.2-p Holoprosencephaly 1 21q Holoprosencephaly 2 2p Holoprosencephaly 3 7q Holoprosencephaly 4 18p Holoprosencephaly 5 13q Holoprosencephaly 7 9q Holoprosencephaly and preaxial polydactly 5q Holt-Oram 12q Hypocalcemia with Bartter 3q13.33-q Infantile hyperinulinism, enteropathy and deafness (Ushers disease) 11p Joubert 5 12q Kallmann 1 Xp

5 Langer-Giedion Syndrome 8q Lesch-Nyhan Syndrome Xq Li-Fraumeni 1 17p Lissencephaly with cerebellar hypoplasia 7q LMNA 1q Lowe Xq Marfan 1 15q Marfan 2 3p MECP2 / Retts Xq MENKES Xq Mental retardation genes incl XLMR Mental retardation X linked Xq27.1 dup and del Xq Microphthalmia with linear skin defects Xp Microphthalmia 3q26.3-q Miller-Dieker 17p Muenke / Achondroplasia 4p Muscle-Eye-Brain Disease 1p Nail-Patella 9q Nebulette 10p Nephrolithiasis 1, X-linked, Dent disease Xp11.22-p Nephronophthisis 2q Neurofibromatosis 1 (NF1) 17q NF1 Microduplication Neurofibromatosis 2 (NF2) 22q NFIA Haploinsufficiency 1p Noonan 1 12q Noonan 4 2p Norrie disease Xp Obesity, severe 6q Okihiro 20q Oligodontia 14q Opitz Xq Opitz -Kaveggia syndrome Xq Optic Atrophy 3q28-q Orofaciodigital 1 Xp Osteopoikilosis 12q OTC Xp Pallistar-Killian 12p Pelizaeus-Merzbacher disease Xq Peters Plus Syndrome 13p13-q Peutz-Jeghers Syndrome 19p Pitt Hopkins 18q Polycystic kidney disease 4q Potocki-Lupski 17q Potocki-Shaffer 11p Prader-Willi 15q Renal cysts and diabetes 17q Retinoblastoma 13q Rieger 4q Rubinstein-Taybi Syndrome 16p Saethre-Chotzen 7p Schizencephaly 10q Sclerostin 17q SCN1A-related seizures 2q Short stature 1q SHOX Xp

6 Smith-Lemli-Opitz 11q Smith-Magenis 17p Smith Magenis Microduplication SOTOS 5q Split/hand foot 7q Split/hand foot malformation -3 10q Split/hand foot malformation -5 2q SRY deletion Yp Steroid sulfatase Xp Stickler 1 12q STS Microduplication Synpolydactyly 2q Thrombocytopenia absent radius syndrome 1q Townes Brocks 16q Transient Neonatal diabetes 6q Trischororhinophlangeal, Langer-Giedion Syndrome probes 8q Tuberous sclerosis-1 9q Tuberous sclerosis-2 16p Ulnar-Mammary 12q Van der Woude Syndrome 1q VEGFA disorders 6p Verbal dyspraxia 7q Von Hippel Lindau 3p Waardenburg syndrome I 2q Waardenburg syndrome 4 22q Waardenburg syndrome IIA 3p WAGR Syndrome probes 11p Walker/Warburg Syndrome 9q Williams-Beuren 7q Williams Microduplication 7q Wilsons disease 13q Wolf-Hirschhorn 4p X linked agammaglobulinemia Xq X linked heterotaxy Xq X linked juvenille retinoschisis Xp X linked lymphoproliderative syndrome Xq X linked spasms/ atypical Rett Xp Xp11.3 deletion Xp XY sex reversal 9q All Aneuploidies All Subtelomeres Syndromes*, Probe every 3Kb within gene, 33 probes per gene Subtelomeres probe every 40Kb Recombination hotspots, Probe every 40Kb Autism/Heart Disease/MR/Eye*. 410 genes, Probe every 3Kb, 33 probes per gene Genome backbone, Probe every 40Kb * Average figures for gene regions including 5Kb of flanking region