This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to the main genetic syndromes which phenotypes can be clinically recognizable. This test provides the clinical geneticist with a tool for the rapid molecular confirmation of common clinical diagnoses.The panel includes genes related to Adams-Oliver, Albinism, X-linked alpha-thalassemia/DI, Aniridia, Distal Arthrogryposis, Bardet-Biedl, CHARGE, Cockayne, Coffin-siris, Progeria and Progeroid Syndromes, Pseudohypoparathyroidism (Albright hereditary osteodystrophy), 3M Syndrome, Acrocallosal Syndrome, Aarskog Syndrome, Alagille Syndrome, Alstrom Syndrome, Bannayan-Riley-Ruvalcaba-Smith Syndrome, Baraitser-Winter Syndrome, Blepharophimosis Syndrome, Ptosis and Inverse Epicanthus (BPES), Bloom Syndrome, Bohring-Opitz Syndrome, Cantu Syndrome, Cohen Syndrome, Cornelia de Lange Syndrome, EEC Syndrome, Floating-Harbor Syndrome, Freeman-Sheldon Syndrome, Gorlin Syndrome, Holt Oram Syndrome, Johanson-Blizzard Syndrome, Kabuki Syndrome, Kleefstra Syndrome, Loyes-Dietz Syndrome, Lujan-Fryns Syndrome, Marfan Syndrome and other conditions associated to FBN1 gene, Marshall-Smith Syndrome, Miller Syndrome, Mowat-Wilson Syndrome, Myhre Syndrome, Nager Syndrome, Nicolaides-Baraitser Syndrome, Noonan Syndrome and other rasopathies, Opitz C Syndrome (Optiz Trigonocephaly), Opitz G/BBB Syndrome, Pitt-Hopkins Syndrome, Ritscher-Schinzel Syndrome (3C), Robinow Syndrome, Rothmund-Thomson Syndrome, Rubinstein-Taybi Syndrome, Say-Barber-Biesecker-Young-Simpson Syndrome (SBBYSS), Schinzel-Giedion Syndrome, Schwarz-Jampel Syndrome, Seckel Syndrome, Sheldon-Hall Syndrome, Shprintzen-Goldberg Syndrome, Simpson-Golabi Syndrome, Smith-Lemli-Opitz Syndrome, Sotos Syndrome, Townes-Brockes Syndrome, Treacher-Collins Syndrome, Nail-patella Syndrome, Van der Woude Syndrome, Waardenburg Syndrome, Weaver Syndrome, Wiedemann-Steiner Syndrome, Multiple pterygium syndrome, Duane-radial ray syndrome (Okihiro), FG Syndrome (Opitz-Kaveggia), KBG Syndrome, TAR Syndrome and Trichorhinophalangeal Syndrome.

Especialidades:

Medical Genetics