Producto | Tipo de test | Genes |
---|---|---|
Mowat-Wilson, síndrome | Gen NGS | ZEB2 |
Moyamoya, enfermedad | Gen NGS | RNF213 |
MPPH, Síndrome (Megalencefalia -... | Gen NGS | PIK3CA |
Mucolipidosis tipo 3 | Gen NGS | GNPTAB |
Mucopolisacaridosis Tipo 1H | Gen NGS | IDUA |
Mucopolisacaridosis Tipo II | Gen NGS | IDS |
Mucopolisacaridosis Tipo IIIA | Gen NGS | SGSH |
Mucopolisacaridosis Tipo IIIB (Síndrome de... | Gen NGS | NAGLU |
Mucopolisacaridosis Tipo IIIC | Gen NGS | HGSNAT |
Mucopolisacaridosis Tipo IIID | Gen NGS | GNS |
Mucopolisacaridosis Tipo IV B | Gen NGS | GLB1 |
Muenke, síndrome | Gen NGS | FGFR3 |
Muerte súbita, Panel | Exoma Dirigido | ABCC9,ACTC ,ACTC1,AKAP9 ,ANK2,CACNA1C,CACNA1D,CACNA2D1,CACNB2,CACNB2B,CALM1,CALM2,CALM3,CASQ2,CAV3,DES,DMD , DSC2, DSG2, DSP, EMD, FGF12, FHL2, FLNC, GAA, GJA5, GLA, GPD1L, HCN4, HFE, IRX3, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KCNQ2, LAMP2, LDB3, LMNA, MURC, MYBPC3, MYH6,MYH7,MYL2,MYL3,NKX2-5, NOS1AP, NPPA, PKP2, PLN, PRKAG2, PTRF, RANGRF, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, SYNE1, SYNE2, TAZ,TBX5,TMEM43,TNNC1,TNNI3,TNNI3K,TNNT2,TPM1,TRDN,TRPM4,TTR |
Naegeli-Franceschetti-Jadassohn, síndrome | Gen NGS | KRT14 |
nager, síndrome | Gen NGS | SF3B4 |
Nail Patella, síndrome | Gen NGS | LMX1B |
Paneles de Enfermedades Mitocondriales