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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 |
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 |
Paneles de Enfermedades Mitocondriales