Dermatología

None

Producto	Tipo de test	Genes
Ictiosis vulgar	Gen NGS
Albinismo	Exoma Dirigido
Anomalías de la pigmentación	Exoma Dirigido	ADAR, AP3B1, BLOC1S3, BLOC1S6, BRAF, CBL, DTNBP1, EDN3, EDNRB, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, KITLG, KRAS, LYST, MAP2K1, MAP2K2, MITF, MLPH, MYO5A, NF1, NRAS, OCA2, PAX3, PRKAR1A, PTPN11, RAB27A, RAF1, SHOC2, SLC45A2, SNAI2, SOS1, SOX10, SPRED1, STK11, TYR, TYRP1
Dermatitis atópica severa	Panel NGS
Displasia focal facial Tipo III	Gen NGS
Epidermolisis Bullosa	Exoma Dirigido	COL17A1, COL7A1, DSP, DST, EXPH5, FAM111B, FERMT1, ITGA3, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, RECQL4, USB1
Hiperqueratosis palmoplantar,...	Gen NGS	KRT9
Hipoplasia dérmica focal (Síndrome de Goltz)	Gen NGS
Ictiosis	Exoma Dirigido	ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, CLDN1, CYP4F22, EBP, ERCC2, ERCC3, FLG, GBA, GJB2, GJB3, GJB4, GTF2H5, KRT1, KRT10, KRT2, LOR, MBTPS2, MPLKIP, NIPAL4, PEX7, PHYH, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, VPS33B
Ictiosis congénita tipo feto Arlequín	Gen NGS	ABCA12
Ictiosis Lamelar Congénita	Exoma Dirigido	TGM1, ALOX12B, CYP4F22, ALOXE3
Ictiosis lamelar congénita tipo 2	Gen NGS	ALOX12B
Ictiosis lamelar congénita tipo 3	Gen NGS	ALOXE3
Ictiosis lamelar congénita tipo 4A	Gen NGS	ABCA12
Ictiosis lamelar congénita tipo 5	Gen NGS	CYP4F22
Ictiosis lamelar congénita tipo 6	Gen NGS	NIPAL4

Mostrando 1 - 16 de 39 items