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CGT Basic

Test básico que analiza 8 genes. Basado en recomendaciones de las sociedades médicas ACOG y SEF.

Características:

Genes estudiados: 8

Enfermedades detectadas: 8.

Variantes: 630

Porcentaje estimado de portadores*: 10,6%.

Media estimada de mutaciones/individuo:**: 1,06

Profundidad media: 350X

Test complementarios: HBA, FMR1, SMN1

Tipo de muestra: sangre o saliva

Entrega de resultados: 20 días laborables

*Datos propios obtenidos sobre una base de 30.000 test

**Media estimada de individuos positivos

Todas las enfermedades recesivas ligadas al cromosoma X, solo serán analizadas en las mujeres.

GenNombre enfermedadHerenciaTranscriptoVariantes patogenicas
CFTRFibrosis quísticaAutosómica recesivaNM_000492.3c.1A>G;c.4C>T;c.11C>A;c.50delT;c.44T>C;c.53+1G>T;c.57G>A;c.79G>T;c.88C>T;c.115C>T;c.137C>A;c.164+1G>A;c.164+1G>T;c.164+2T>C;c.164+4dupT;c.165-3C>T;c.165-1G>A;c.166G>A;c.169T>G;c.170G>A;c.171G>A;c.174_177delTAGA;c.175dupA;c.178G>A;c.178G>T;c.200C>T;c.223C>T;c.233dupT;c.254G>A;c.262_263delTT;c.263T>A;c.263T>G;c.271G>A;c.273+1G>A;c.273+3A>C;c.274-2A>G;c.274-1G>A;c.274G>A;c.274G>T;c.292C>T;c.305T>G;c.310delA;c.313delA;c.325_327delTATinsG;c.328G>C;c.328G>T;c.349C>T;c.350G>A;c.350G>T;c.366T>A;c.409delC;c.413_415dupTAC;c.416A>G;c.442delA;c.445G>A;c.445G>T;c.446G>T;c.489+1G>T;c.531delT;c.532G>A;c.543_546delTAGT;c.571T>G;c.577G>T;c.579+1G>T;c.579+3A>G;c.579+5G>A;c.580-1G>T;c.595C>T;c.613C>T;c.617T>G;c.647G>A;c.658C>T;c.680T>G;c.695T>A;c.708delT;c.717delG;c.803delA;c.825C>G;c.828C>A;c.850dupA;c.861_865delCTTAA;c.935_937delTCT;c.933C>G;c.948delT;c.987delA;c.988G>T;c.1000C>T;c.1001G>T;c.1006_1007insG;c.1007T>A;c.1013C>T;c.1021_1022dupTC;c.1021T>C;c.1029delC;c.1037T>C;c.1040G>A;c.1040G>C;c.1055G>A;c.1075C>A;c.1079C>A;c.1081delT;c.1116+1G>A;c.1117-1G>A;c.1130dupA;c.1155_1156dupTA;c.1202G>A;c.1203G>A;c.1209+1G>A;c.1211delG;c.1240C>T;c.1301_1307delCACTTCT;c.1327_1330dupGATA;c.1340delA;c.1364C>A;c.1365_1366delGG;c.1393-2A>G;c.1393-1G>A;c.1397C>A;c.1397C>G;c.1400T>C;c.1418delG;c.1420G>A;c.1438G>T;c.1466C>A;c.1475C>T;c.1477_1478delCA;c.1477C>T;c.1487G>A;c.1505T>C;c.1519_1521delATC;c.1521_1523delCTT;c.1538A>G;c.1545_1546delTA;c.1558G>T;c.1572C>A;c.1573C>T;c.1584+1G>A;c.1585-8G>A;c.1585-1G>A;c.1624G>T;c.1645A>C;c.1646G>A;c.1647T>G;c.1648G>T;c.1650delA;c.1651G>A;c.1652G>A;c.1654C>T;c.1657C>T;c.1670delC;c.1673T>C;c.1675G>A;c.1679G>A;c.1679G>C;c.1679+1G>A;c.1679+1G>C;c.1680-886A>G;c.1680-1G>A;c.1682C>A;c.1692delA;c.1703delT;c.1705T>G;c.1721C>A;c.1753G>T;c.1766+1G>A;c.1766+1G>C;c.1766+1G>T;c.1766+3A>G;c.1766+5G>T;c.1792_1798delAAAACTA;c.1826A>G;c.1882G>C;c.1923_1931delCTCAAAACTinsA;c.1973_1985delGAAATTCAATCCTinsAGAAA;c.1986_1989delAACT;c.2012delT;c.2017G>T;c.2052delA;c.2052dupA;c.2051_2052delAAinsG;c.2053dupC;c.2053C>T;c.2125C>T;c.2128A>T;c.2143C>T;c.2158C>T;c.2175dupA;c.2195T>G;c.2215delG;c.2241_2248delGATACTGC;c.2290C>T;c.2353C>T;c.2374C>T;c.2423_2424dupAT;c.2453delT;c.2463_2464delTG;c.2464G>T;c.2490+1G>A;c.2491G>T;c.2537G>A;c.2538G>A;c.2547C>A;c.2551C>T;c.2583delT;c.2589_2599delAATTTGGTGCT;c.2601dupA;c.2645G>A;c.2657+5G>A;c.2658-1G>C;c.2668C>T;c.2735C>A;c.2737_2738insG;c.2739T>A;c.2763_2764dupAG;c.2780T>C;c.2810dupT;c.2825delT;c.2834C>T;c.2869_2870insG;c.2875delG;c.2896delA;c.2908G>C;c.2930C>T;c.2936A>T;c.2988G>A;c.2988+1G>A;c.2989-2A>G;c.2989-1G>A;c.3002_3003delTG;c.3011_3019delCTATAGCAG;c.3017C>A;c.3039delC;c.3039dupC;c.3067_3072delATAGTG;c.3107C>A;c.3124C>T;c.3139_3139+1delGG;c.3140-26A>G;c.3160C>G;c.3181G>C;c.3194T>C;c.3196C>T;c.3197G>A;c.3205G>A;c.3209G>A;c.3230T>C;c.3266G>A;c.3276C>A;c.3276C>G;c.3292T>C;c.3293G>A;c.3294G>A;c.3294G>C;c.3294G>T;c.3302T>A;c.3302T>G;c.3304A>T;c.3310G>T;c.3353C>T;c.3368-2A>G;c.3435G>A;c.3454G>C;c.3468G>A;c.3468+5G>A;c.3472C>T;c.3484C>T;c.3528delC;c.3532_3535dupTCAA;c.3536_3539delCCAA;c.3587C>G;c.3605delA;c.3611G>A;c.3612G>A;c.3659delC;c.3691delT;c.3700A>G;c.3717+4A>G;c.3717+5G>A;c.3717+40A>G;c.3718-2477C>T;c.3718-3T>G;c.3718-1G>A;c.3719T>G;c.3731G>A;c.3744delA;c.3747delG;c.3752G>A;c.3761T>G;c.3763T>C;c.3764C>A;c.3773dupT;c.3846G>A;c.3848G>T;c.3873+1G>A;c.3873+2T>C;c.3883_3886delATTT;c.3883delA;c.3889dupT;c.3891dupT;c.3908delA;c.3909C>G;c.3937C>T;c.3971T>C;c.4036_4042delCTAAGCC;c.4046G>A;c.4077_4080delTGTTinsAA;c.4086dupT;c.4111G>T;c.4127_4131delTGGAT;c.4144C>T;c.4147dupA;c.4197_4198delCT;c.4231C>T;c.4234C>T;c.4242+1G>A;c.4242+1G>T;c.4251delA;c.4300_4301dupAG;c.4426C>T
FMR1Síndrome de X-frágilLigada al X-Expanded allele_full mutation;Expanded allele_premutation
G6PDAnemia hemolítica por deficiencia de G6PD (favismo)Ligada al XNM_000402.4c.1478G>A;c.1466G>T;c.1450C>T;c.1429G>A;c.1408C>T;c.1406G>C;c.1319G>A;c.1270G>C;c.1268G>A;c.1249C>T;c.1246A>G;c.1179C>A;c.1178A>T;c.1172C>T;c.1093G>A;c.1054T>C;c.961G>A;c.934G>C;c.896G>A;c.770G>T;c.727G>T;c.683G>C;c.653C>T;c.632A>T;c.583A>G;c.577G>A;c.473T>C;c.233T>C
GJB2Sordera autosómica recesiva tipo 1AAutosómica recesivaNM_004004.5c.647_650delGATA;c.645delT;c.632_633delGT;c.617A>G;c.605G>T;c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC;c.598G>A;c.598G>T;c.596C>T;c.575_576delCA;c.564_565delGA;c.551G>A;c.551G>C;c.550C>T;c.535G>A;c.516G>A;c.508_511dupAACG;c.506G>A;c.465T>A;c.456C>A;c.439G>A;c.428G>A;c.427C>T;c.416G>A;c.408C>A;c.402delG;c.400T>C;c.389G>C;c.385G>T;c.379C>T;c.370C>T;c.365A>T;c.358_360delGAG;c.334_335delAA;c.327_328delGGinsA;c.313_326delAAGTTCATCAAGGG;c.310_323delAGGAAGTTCATCAA;c.299_300delAT;c.299A>T;c.298C>T;c.290dupA;c.280_284dupCACGT;c.283G>A;c.279G>A;c.270dupA;c.269dupT;c.269T>C;c.250G>A;c.250G>C;c.250G>T;c.246C>G;c.239A>C;c.238C>T;c.235delC;c.232dupG;c.231G>A;c.230G>A;c.229T>C;c.224G>A;c.223C>G;c.223C>T;c.218A>G;c.196G>C;c.196G>T;c.194A>G;c.193T>C;c.176G>A;c.176G>C;c.175G>A;c.175G>C;c.172C>G;c.172C>T;c.169C>T;c.167delT;c.164C>A;c.162C>A;c.158G>A;c.148G>A;c.148G>T;c.139G>T;c.136G>A;c.134G>A;c.132G>A;c.132G>C;c.131G>A;c.131G>C;c.125_127delAGG;c.119C>A;c.119C>G;c.109G>T;c.101T>G;c.95G>A;c.95G>T;c.94C>A;c.94C>T;c.71G>A;c.66G>T;c.51_62delCACCAGCATTGGinsA;c.59T>C;c.50C>T;c.44A>C;c.35delG;c.35dupG;c.35G>T;c.34G>C;c.34G>T;c.19C>T;c.11delG;c.9G>A;c.1A>G;c.-23+1G>A;c.-23G>T
HBA1Alfa talasemiaAutosómica recesiva---FIL;--MED;--SEA;--THAI;-(?)20.5;-?3.7;-?4.2
HBA2Alfa talasemiaAutosómica recesiva---FIL;--MED;--SEA;--THAI;-(?)20.5;-?3.7;-?4.2
HBBHemoglobinopatías asociadas al gen HBBAutosómica recesivaNM_000518.4c.*110T>C;c.440_441dupAC;c.440A>C;c.440A>T;c.439C>G;c.438T>A;c.437A>G;c.436T>C;c.435G>C;c.431A>C;c.428C>A;c.421G>A;c.383A>C;c.371_378delCCCCACCA;c.364G>A;c.364G>T;c.347C>A;c.343_344delCTinsG;c.344T>C;c.341T>A;c.332T>C;c.328delG;c.328G>A;c.323dupG;c.320T>G;c.316-1G>A;c.316-1G>T;c.316-2A>C;c.316-2A>G;c.316-3C>A;c.316-106C>G;c.316-146T>G;c.316-197C>T;c.315+2T>G;c.315+1G>A;c.315+1G>C;c.312C>G;c.306G>C;c.305A>G;c.304G>A;c.302C>T;c.299A>C;c.299A>G;c.299A>T;c.298G>A;c.298G>C;c.298G>T;c.295G>A;c.293A>T;c.287dupA;c.282_283dupTG;c.283G>C;c.277C>A;c.277C>T;c.275T>C;c.271G>T;c.269G>A;c.268A>C;c.257T>C;c.251delG;c.248A>C;c.248A>T;c.247A>G;c.230delC;c.226delC;c.217_221delAGTGAinsT;c.217dupA;c.216dupT;c.208G>A;c.206T>A;c.203_204delTG;c.201delA;c.199A>G;c.194delG;c.190C>T;c.184A>T;c.182T>A;c.179A>C;c.176C>G;c.162delT;c.143_146dupATCT;c.143dupA;c.135delC;c.134C>G;c.126_129delCTTT;c.130G>T;c.128T>C;c.127T>C;c.127T>G;c.114_120delGACCCAG;c.117_118delCC;c.118C>T;c.114G>A;c.112delT;c.113G>A;c.110delC;c.108C>A;c.103G>T;c.93G>T;c.93-1G>A;c.93-1G>C;c.93-2A>C;c.93-21G>A;c.92+6T>C;c.92+5G>A;c.92+5G>C;c.92+5G>T;c.92+2T>A;c.92+2T>C;c.92+1G>A;c.92+1G>T;c.92G>A;c.92G>C;c.91A>C;c.90C>T;c.85dupC;c.86T>A;c.82G>T;c.79_80insT;c.80A>G;c.79G>A;c.79G>T;c.68_74delAAGTTGG;c.75T>A;c.64dupG;c.59A>G;c.51delC;c.52A>T;c.48G>A;c.46delT;c.47G>A;c.45dupG;c.36delT;c.27dupG;c.25_26delAA;c.20delA;c.20A>T;c.17_18delCT;c.19G>A;c.8A>C;c.4delG;c.4G>T;c.3G>A;c.2T>A;c.2T>C;c.2T>G;c.1A>G;c.-50A>C;c.-75G>C;c.-78A>C;c.-78A>G;c.-79A>G;c.-80T>A;c.-137C>A;c.-137C>G;c.-138C>T;c.-151C>T
SMN1Atrofia muscular espinalAutosómica recesiva-Exon 7-8 deletion;Exon 7 deletion
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