Génétique moléculaire
publicité
FORM-4910_Délais de réponse des analyses génétiques moléculaires_Rev 1_02 mars 2015 gène délais Low gamma-GT familial intra-hepatic cholestasis (PFIC2) ABCB11 4 mois Low gamma-GT familial intra-hepatic cholestasis (PFIC3) ABCB4 4 mois Adenomatous Polyposis, familial APC 4 mois Angelman/Prader Willi Syndrome AS/PW 3 mois Low gamma-GT familial intra-hepatic cholestasis (PFIC1) ATP8B1 4 mois Hereditary nonpolyposis colorectal cancer (HNPCC) / Lynch MLH1 NEG (gene package) BRAF/MSMLH1 2 mois Hereditary breast cancer (gene package) BRCA1/2 9 mois Hereditary breast cancer BRCA1 6 mois Hereditary breast cancer BRCA2 6 mois Beckwith-Wiedemann syndrome BWS 3 mois Multiple cavernomas gene package CCM1/2/3 4 mois Multiple cavernomas CCM2 4 mois Familial melanomas, Breast Cancer, Multiple cancers 4 mois CDKN2A Cystic fibrosis and related disorders CFTR 3 mois Cystic fibrosis and related disorders (86 mutations) CFTR_71 1 mois Myotonic dystrophy 1 (Steinert disease) DMPK 4 mois Hemophilia A (complete) F8 4 mois F8_Inv Hemophilia A (inv) 4 mois Hemophilia B F9 4 mois Lymphedema primary congenital, Milroy disease, FLT4 4 mois Fragile X syndrome/POF/FXTAS FMR1 6 semaines Lymphedema-distichiasis syndrome FOXC2 4 mois Lymphedema (gene package) FOXC2/FLT4 4 mois Deafness, prelingual non syndrome, DFNB1A, DFNB1B GJB2/6 1 mois DFNB1A GJB2 1 mois DFNB1B GJB6 1 mois Glomuvenous malformations GLMN 4 mois Hemochromatosis hereditary type 1 HFE 1 mois Huntington disease HTT 4 mois Van der Woude syndrome, Popliteal pterygium syndrome IRF6 4 mois Alagille syndrome JAG1 6 mois Multiple cavernomas KRIT1 4 mois Lynch Hereditary nonpolyposis colorectal cancer (HNPCC) / Lynch (gene package) 4 mois Hereditary nonpolyposis colorectal cancer (HNPCC) MLH1 4 mois Hereditary nonpolyposis colorectal cancer (HNPCC) / Lynch MSH2 4 mois Hereditary nonpolyposis colorectal cancer (HNPCC) / Lynch MSH6 4 mois Colorectal Adenomatous Polyposis, Autosomal Recessive MUTYH 4 mois Ornithine Transcarbamylase Deficiency OTC 4 mois Multiple cavernomas PDCD10 4 mois Low gamma-GT familial intra-hepatic cholestasis (gene package) PFIC1/2 4 mois Hereditary nonpolyposis colorectal cancer (HNPCC) / Lynch PMS2 4 mois Pancreatitis, hereditary PRSS1 3 mois Capillary Malformation - Arteriovenous Malformation RASA1 4 mois SDHB/C/D Paraganglioma-pheochromocytoma (gene package) 4 mois Paraganglioma-pheochromocytoma SDHB 4 mois Paraganglioma-pheochromocytoma SDHC 4 mois Paraganglioma-pheochromocytoma SDHD 4 mois Hereditary angioneurotic edema SERPING1 4 mois Spinal muscular atrophy type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4SMN1 2 mois Pancreatitis, hereditary SPINK1 3 mois Silver-Russel syndrome SRS 3 mois Peutz-Jeghers Syndrome STK11 4 mois Mucocutaneous venous malformations TEK 4 mois Venous malformation (gene package) TEK/GLMN 4 mois Maladie Li-Fraumeni syndrome TP53 Tuberous sclerosis TSC1 Tuberous sclerosis (gene package) TSC1/2 Tuberous sclerosis TSC2 Di-George VCF Von Hippel Lindau VHL Azoo-/oligozoospermia Yq11 chromosome 7 Uniparental Disomy UPD7 chromosome 14 Uniparental Disomy UPD14 4 mois 4 mois 4 mois 4 mois 2 mois 4 mois 2 mois 3 mois 3 mois