Génétique moléculaire

FORM-4910_Délais de réponse des analyses génétiques moléculaires_Rev 1_02 mars 2015
Maladie 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 CDKN2A
4 mois
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
Hemophilia A (inv) F8_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
Hereditary nonpolyposis colorectal cancer (HNPCC) / Lynch (gene package) Lynch
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
Paraganglioma-pheochromocytoma (gene package) SDHB/C/D
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 4
SMN1
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

Li-Fraumeni syndrome TP53
4 mois
Tuberous sclerosis TSC1
4 mois
Tuberous sclerosis (gene package) TSC1/2
4 mois
Tuberous sclerosis TSC2
4 mois
Di-George VCF
2 mois
Von Hippel Lindau VHL
4 mois
Azoo-/oligozoospermia Yq11
2 mois
chromosome 7 Uniparental Disomy UPD7
3 mois
chromosome 14 Uniparental Disomy UPD14
3 mois