Cariotipo Molecular Tecnología Microarray acgh 60K

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1 60K En qué consiste la prueba? El ADN del individuo se enfrenta a un patrón de referencia, de forma que podemos discernir las zonas del genoma del mismo que presentan perfiles patológicos. La tecnología Microarray acgh, utiliza técnicas digitales de estudio de los datos, a diferencia del cariotipo clásico con Bandas G, que utiliza interpretación humana visual con microscopio. Qué ventajas aporta? La tecnología acgh presenta importantes ventajas respecto al cariotipo convencional, ya que entre otras cosas nos permite: Mediante un único ensayo analizamos todo el genoma, no siendo necesarios otros métodos específicos posteriores. En un mismo ensayo, nos permite la detección de microdeleciones y duplicaciones, no siendo necesario el uso de técnicas específicas posteriores (MLPA o FISH). Tiempo de respuesta inferior al cariotipo convencional. Menor cantidad de muestra necesaria para el análisis. Cuál es su objetivo? Pretende detectar con el mayor índice de confianza y menor tiempo de espera, la información genética más importante que afecte a la calidad de vida del bebé. A quién va dirigida la prueba? Padres con niño/niña que presente anomalías en el desarrollo físico o psicológico, y desee definir el origen de la misma de forma rápida y segura. Muy recomendado en embarazos de alto riesgo que requieran amniocentesis y en mujeres embarazadas que deseen tener información más extendida sobre la información genética de su bebé. Aspectos técnicos Mayor resolución que el Cariotipo Clásico con bandas G detectadas al microscopio. Barrido completo del genoma en una sola prueba diagnóstica. Detección de más de 120 síndromes por Test. Detección de Retraso Mental, Enfermedades Congénitas, Enfermedades relacionadas con el Autismo, Retraso en el Desarrollo. Entrega de resultados en aprox. 12 días. Volúmenes de muestra muy reducidos. Cómo se realiza el test? Prenatal. 15 ml de líquido amniótico o de vellosidades coriales. Postnatal. 5 ml Sangre EDTA. En todos los casos, al ser una prueba genética, será necesario cumplimentar y enviar junto a la muestra, la Hoja de Consentimiento Informado. En el documento adjunto se detallan las enfermedades y síndromes detectados mediante este análisis. Código de Prueba:14650 (Postnatal), (Prenatal)

2 PANEL CGH ARRAY PRENATAL (14651) S de monosomía 1p pterp Deleción S de microdeleción 1p32-p p31.3-p Deleción S de microdeleción 1q41-q q41-q Deleción S de microdeleción 1q43-q q43q Deleción S de Feingold p Deleción S de hipotonía-cistinuria p Deleción Holoprosencefalia p Deleción S de microdeleción 2p16.1-p p16.1p Deleción S de microdeleción 2p11-p p12-p Deleción Displasia mesomélica, tipo Savariayan q Deleción S de Joubert q Del homozigótica Nefronoftosis q Deleción Malformación split/hand foot q Deleción S de microdeleción 2q q Deleción S de microdeleción 2q32-q q Deleción Holoprosencefalia q37.1-q Deleción S de braquidactilia-retraso mental q37.3qter 2991 Deleción Blefarofimosis, ptosis y epicantus inverso q Deleción S de Dandy-Walker q Deleción Microftalmia sindrómica q Deleción Malformación split/hand foot q Deleción S de microdeleción 3q q29qter 1164 Deleción S de duplicación 3q q Duplicación S de Wolf-Hirschhorn p Deleción S de microdeleción 4q q Deleción S de Axenfeld Rieger q Deleción S de cri-du-chat (incluye región distal) pterp Deleción S de Cornelia de Lange p Deleción S de duplicación 5p p Duplicación Heterotopia periventricular asociada a deleción 5q q14.3-q Deleción S de microdeleción 5q q Deleción S de Sotos q Deleción

3 PANEL CGH ARRAY PRENATAL (14651) Displasia cleidocraneal p Deleción S de microdeleción 6q11-q q11-q Deleción S similar a síndrome de Prader-Willi en el cromosoma q Deleción Sde microdeleción 6q24-q q24-q Deleción S de Saethre-Chotzen p Deleción S de cefalopolisindactilia de Creig p Deleción S de Williams-Beuren q Deleción S de duplicación de Williams-Beuren q Duplicación S de Williams-Beuren asociado a espamos infantiles q Deleción Malformación split-hand/foot q Deleción Holoprosencefalia q Deleción Hernia diafragmática p Deleción S Charge q Deleción S de Langer Giedion q23q Deleción S Triconofaríngeo I q23q Deleción S del cromosoma 8 recombinante q22.1/ 8p - 8pdel / 8qdup Del 9p24.3 asoc a disg gonadal 46,XY, parcial o completa p Deleción S de microdeleción 9p p Deleción Holoprosencefelia q Deleción S de uña-rótula q Deleción Hipoparatiroidismo, sordera sensorineural y enfermedad renal p Deleción S de Digeorge 2 (incluye región del gen Nebulette) p Deleción S de microdeleción 10q q Deleción Malformación split-hand/foot q Duplicación S de microdeleción 10q q Deleción S de Beckwith-Wiedemann pter 2781 Del/dup S de microdeleción homocigota 11p15-p p15p Del homozigótica S de microdeleción 11p p13-p Deleción S Wagr p Deleción S de Potocki-Shaffer p Deleción S de Jacobsen q25qter 3932 Deleción S de Pallister-Killian pterpcen 7332 Tetrasomía

4 PANEL CGH ARRAY PRENATAL (14651) S de Noonan q Deleción S de Patau - Tri Trisomía Holoprosencefalia q del / dup Microfalmia sindrómica q22q Deleción S de Prader-Willi q Deleción S de Angelman q Deleción S de duplicación 15q11-q q11-q Duplicación S de duplicación 15q q Duplicación Hernia diafragmática congénita q26qter 3746 Deleción S de microdeleción 15q26-qter q26-qter 7982 Deleción S de microdeleción 16p p Deleción S de alfa talasemia y retraso mental ligado al cromosoma pter-p Deleción Enf renal poliquística infantil severa con esclerosis tuberosa p Deleción S de Rubinstein-Taybi p Deleción S de microdeleción 16p12.2-p q12.2-p Deleción S de lisencefalia de Miller-Dieker p Deleción S de duplicación 17p p Duplicación Enf de Charcot-Marie-Tooth, desmielinizante, tipo 1A p Duplicación Neuropatía hereditaria con sens. a estímulos de presión p Deleción S de Smith-Magenis p Deleción S de Potocki-Lupski p Duplicación S de microdeleción 17q q Deleción S de microdeleción 17q q Deleción S de duplicación 17q q Duplicación S de microdeleción 17q23.1-q q23.1-q Deleción Displasia campomélica q Deleción S de deleción 18p p Deleción Sde Edwards - Tri18 Trisomía Holoprosencefelia p Deleción S de Pitt-Hopkins q Deleción S de deleción 18q qter 977 Deleción Atresia aural congénita qter 2593 Deleción

5 PANEL CGH ARRAY PRENATAL (14651) Inversión pericéntrica del cromosoma q22 del/dup S de microdeleción 19p p Deleción S de Alagille p Deleción S de Down Tri Trisomía Holoprosencefalia q Deleción S del ojo de gato (Cat-Eye) q Duplicación S de Digeorge q Deleción Velocardiofacial q Deleción Opitz-GBBB q Deleción S de microdeleción 22q11.2 distal q Deleción S de microdeleción 22q q13.3qter 1779 Deleción S de Turner DelX Monosomía S del triple X TriX Trisomía S de Klinefelter XXY Trisomía S de ictiosis complicada ligada al X Xp Deleción S de microdeleción Xp Xp Deleción Distrofia muscular de Duchenne (deleción del gen DMD) Xp Deleción S de microdeleción Xp Xp Deleción S de duplicación Xp11.23-p Xp11.23p Duplicación Retraso mental sindrómico ligado al X tipo Turner Xp Deleción Retraso mental ligado al X con panhipopituitarismo Xq Duplicación S de microdeleción Xq Xq Deleción S de duplicación MECP Xq Duplicación S de duplicación Xq Xq Duplicación Cambio de sexo 46,XY Yp11.3 0,7 deleción S del XYY XYY Trisomía

6 PANEL CGH ARRAY POSTNATAL (14650) S de microdeleción 1p32-p p31.3-p Deleción S de trombocitopenia-ausencia del radio (TAR) q Deleción S de microdeleción 1q21.1, región de 1.35 Mb q Deleción S de duplicación 1q q Duplicación S de microdeleción 1q41-q q41-q Deleción S de microdeleción 1q43-q q43q Deleción S de Feingold p Deleción S de hipotonía-cistinuria p Deleción Holoprosencefalia p Deleción S de microdeleción 2p16.1-p p16.1p Deleción S de microdeleción 2p11-p p12-p Deleción Displasia mesomélica, tipo Savariayan q Deleción S de Joubert q Del homozigótica Nefronoftosis q Deleción S de Mowat-Wilson q Deleción Sinpolidactilia q Deleción Malformación split/hand foot q Deleción S de microdeleción 2q q Deleción S de microdeleción 2q32-q q Deleción S de Waardenburg q Deleción Holoprosencefalia q37.1-q Deleción S de braquidactilia-retraso mental q37.3qter 2991 Deleción Síndrome C p Deleción Blefarofimosis, ptosis y epicantus inverso q Deleción S de Dandy-Walker q Deleción Microftalmia sindrómica q Deleción Malformación split/hand foot q Deleción S de microdeleción 3q q29qter 1164 Deleción S de duplicación 3q q Duplicación S de Wolf-Hirschhorn p Deleción S de microdeleción 4q q Deleción S de Axenfeld Rieger q Deleción

7 PANEL CGH ARRAY POSTNATAL (14650) S de cri-du-chat (incluye región distal) pterp Deleción Heterotopia periventricular asociada a anomalías de 5p p Duplicación S de Cornelia de Lange p Deleción S de duplicación 5p p Duplicación Heterotopia periventricular asociada a deleción 5q q14.3-q Deleción S de microdeleción 5q q Deleción Leucodistrofia aut dominante de aparición en adultos q23.3-q Duplicación Foramina parietal q Deleción S de Sotos q Deleción S de microcedeleción 6pter-p pter6p Deleción Displasia cleidocraneal p Deleción S de microdeleción 6q11-q q11-q Deleción S similar a síndrome de Prader-Willi en el cromosoma q Deleción Sde microdeleción 6q24-q q24-q Deleción S de Saethre-Chotzen p Deleción S de cefalopolisindactilia de Creig p Deleción S de Williams-Beuren q Deleción S de duplicación de Williams-Beuren q Duplicación S de Williams-Beuren asociado a espamos q Deleción Malformación split-hand/foot con sordera sensoneural q21.2-q Del homozigótica Malformación split-hand/foot q Deleción Holoprosencefalia q Deleción Hernia diafragmática p Deleción Fémur bífido unilateral con ectrodactilia monodactilia q Deleción S Charge q Deleción S de microdeleción 8q12.1-q q12.2-q Deleción S de mesomelia-sinostosis q Deleción S otofaciocervical q Deleción S facial similar a máscara de Nablus q Deleción S de Langer Giedion q23q Deleción S Triconofaríngeo I q23q Deleción S del cromosoma 8 recombinante q22.1-qt del/dup

8 PANEL CGH ARRAY POSTNATAL (14650) Del 9p24.3 asoc a disg gonadal 46,XY, parcial o completa p Deleción S de microdeleción 9p p Deleción Holoprosencefelia q Deleción S de uña-rótula q Deleción S de Kleefstra q Deleción Hipoparatiroidismo, sord. sensorineural y enf. renal p Deleción S de Digeorge 2 (incluye región del gen Nebulette) p Deleción S de microdeleción 10q q Deleción Malformación split-hand/foot q Duplicación S de microdeleción 10q q Deleción S de Beckwith-Wiedemann pter 2781 Del/dup S de microdeleción homocigota 11p15-p p15p Del homozigótica S de microdeleción 11p p13-p Deleción S Wagr p Deleción S de Potocki-Shaffer p Deleción Displasia otodental q Deleción S de Jacobsen q25qter 3932 Deleción S de Pallister-Killian pterpcen 7332 Tetrasomía S de Noonan q Deleción S ulnar-mamario q Deleción S de Patau - Tri Trisomía Holoprosencefalia q Del / dup S de microdeleción 14q11-q q11-q Deleción Microfalmia sindrómica q22q Deleción S de Prader-Willi q Deleción S de Angelman q Deleción S de duplicación 15q11-q q11-q Duplicación S de microdeleción 15q q Deleción Sordera sensorineural e infert masc ligada al 15q q Deleción S de duplicación 15q q Duplicación S de microdeleción 15q q Deleción Hernia diafragmática congénita q26qter 3746 Deleción

9 PANEL CGH ARRAY POSTNATAL (14650) S de microdeleción 15q26-qter q26-qter 7982 Deleción S de duplicación 16p p Duplicación S de microdeleción 16p p Deleción S de alfa talasemia y retraso mental ligado al cromos pter-p Deleción Enf renal poliquística infantil severa con esclerosis tuber p Deleción S de Rubinstein-Taybi p Deleción S de microdeleción 16p12.2-p q12.2-p Deleción S de microdeleción 16p p Deleción S de microdeleción 16p11.2, región de 220kb p Deleción S de microdeleción 16p11.2, región de 593kb p Deleción S de duplicación 16p p Duplicación S de lisencefalia de Miller-Dieker p Deleción S de duplicación 17p p Duplicación Cistinosis p Deleción Enf de Charcot-Marie-Tooth, desmielinizante, tipo 1A p Duplicación Neuropatía hereditaria con sens. a estímulos de presión p Deleción S de Smith-Magenis p Deleción S de Potocki-Lupski p Duplicación S de microdeleción 17q q Deleción Quistes renales y diabetes q Deleción S de microdeleción 17q q Deleción S de duplicación 17q q Duplicación S de duplicación 17q23.1-q q23.1-q Duplicación S de microdeleción 17q23.1-q q23.1-q Deleción Displasia campomélica q Deleción S de deleción 18p p Deleción Sde Edwards - Tri18 Trisomía Holoprosencefelia p Deleción S de Pitt-Hopkins q Deleción S de deleción 18q qter 977 Deleción Atresia aural congénita qter 2593 Deleción Inversión pericéntrica del cromosoma q22 del/dup

10 PANEL CGH ARRAY POSTNATAL (14650) S de microdeleción 19p p Deleción S de duplicación 19p p Duplicación S de microdeleción 19q q Deleción S de Alagille p Deleción S de Down Tri Trisomía Holoprosencefalia q Deleción S del ojo de gato (Cat-Eye) q Duplicación S de duplicación 22q q Duplicación S de Digeorge q Deleción Velocardiofacial q Deleción Opitz-GBBB q Deleción S de microdeleción 22q11.2 distal q Deleción S de microdeleción 22q q13.3qter 1779 Deleción Enanismo idiopático ligado al X (SHOX) Xp Deleción S de Turner DelX Monosomía S del triple X TriX Trisomía S de Klinefelter XXY Trisomía S de del de genes cont de ictiosis complica Xp Deleción S de microdeleción Xp Xp Deleción Distrofia muscular de Duchenne (deleción Xp Deleción S de microdeleción Xp Xp Deleción S de duplicación Xp11.23-p Xp11.23p Duplicación Retraso mental sindrómico ligado al X tipo Xp Deleción Retraso mental ligado al X con panhipopitu Xq Duplicación S de microdeleción Xq Xq Deleción S de duplicación MECP Xq Duplicación S de duplicación Xq Xq Duplicación Cambio de sexo 46,XY Yp11.3 0,7 Deleción S del XYY XYY Trisomía

11 BIBLIOGRAFÍA RELACIONADA 1. McPherson E. Genetic diagnosis and testing in clinical practice. Clin Med Res. 2006;4: Strassberg M, Fruhman G, Van den Veyver IB. Copy-number changes in prenatal diagnosis. Expert Rev Mol Diagn. 2011;11: Nadler HL, Gerbie AB. Role of amniocentesis in the intrauterine detection of genetic disorders. New Engl J Med. 1970;282: Kuliev AM, Modell B, Jackson L, Simpson JL, Brambati B, Rhoads G, et-al. Risk evaluation of CVS. Prenat Diagn. 1993;13: Wilson RD, Farquharson DF, Wittmann BK, Shaw D. Cordocentesis: overall pregnancy loss rate as important as procedure loss rate. Fetal Diagn Ther. 1994;9: Evans MI, Wapner RJ. Invasive prenatal diagnostic procedures Seminars in perinatology. 2005;29: Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31: Ferguson-Smith ME, Ferguson-Smith MA, Nevin NC, Stone M. Chromosome analysis before birth and its value in genetic counselling. Br Med J. 1971;4:69-74.

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