7637 Unité de génétique biologique Laboratoire de génétique moléculaire-Tripode 1er étage

CHU de Bordeaux - Groupe Hospitalier Pellegrin BORDEAUX FRANCE

External Quality Assesment Online/Validated External Quality Assesment Online External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online External Quality Assesment Online External Quality Assesment Online External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online External Quality Assesment Online/Validated External Quality Assesment Online/Validated Accreditation Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online External Quality Assesment Online 2025-07-08 00:00:00.0 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240591 Diagnostic du syndrome de l'X fragile (gène FMR1) fr Diagnostic 453356 Antenatal diagnosis 453357 Pre-implantation diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453346 PCR based techniques 2025-02-03 00:00:00.0 908 Fragile X syndrome 93256 Fragile X-associated tremor/ataxia syndrome 121878 FMR1 External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45969 Diagnostic de la myopathie myotonique proximale (gène CNBP) fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453346 PCR based techniques 2025-02-03 00:00:00.0 606 Proximal myotonic myopathy 120657 CNBP http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54922 Diagnostic de l'incontinentia pigmenti (recherche de délétions récurrentes des exons 4-10 du gène IKBKG) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453346 PCR based techniques 2025-02-03 00:00:00.0 464 Incontinentia pigmenti 122614 IKBKG http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10102 Diagnostic de la maladie de Steinert (gène DMPK) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453346 PCR based techniques 2025-02-03 00:00:00.0 273 Steinert myotonic dystrophy 121131 DMPK External Quality Assesment Online/Validated External Quality Assesment Online/Validated http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474530 Diagnostic de la neurodégénérescence avec surcharge cérébrale en fer (Panel) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453345 Sanger sequencing 453319 Molecular genetics 453321 Mutation scanning/screening and sequence analysis of selected exons 453345 Sanger sequencing 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453345 Sanger sequencing 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453340 NGS sequencing (except WES) 453319 Molecular genetics 453325 Deletion / Duplication analysis 453348 Array based techniques 2025-02-03 00:00:00.0 385 Neurodegeneration with brain iron accumulation http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474531 Diagnostic du syndrome de Rubinstein-Taybi (Panel) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453345 Sanger sequencing 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453345 Sanger sequencing 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453340 NGS sequencing (except WES) 453319 Molecular genetics 453325 Deletion / Duplication analysis 453348 Array based techniques 453319 Molecular genetics 453325 Deletion / Duplication analysis 453340 NGS sequencing (except WES) 2025-02-03 00:00:00.0 353277 Rubinstein-Taybi syndrome due to CREBBP mutations 353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26016 Diagnostic de la surdité génétique non syndromique (recherche de mutations dans les gènes GJB2, GJB3 et GJB6) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453346 PCR based techniques 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453345 Sanger sequencing 2025-02-03 00:00:00.0 90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA 90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB 122129 GJB2 122135 GJB3 122142 GJB6 External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10530 Diagnostic du syndrome de Wolf-Hirschhorn fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 280 Wolf-Hirschhorn syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10531 Diagnostic du syndrome du cri du chat fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 281 Monosomy 5p syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10532 Diagnostic du syndrome de Pallister-Killian fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 884 Pallister-Killian syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10533 Diagnostic du syndrome du cat-eye fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 195 Cat-eye syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10534 Diagnostic du syndrome de Williams fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 904 Williams syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10535 Diagnostic du syndrome de Rubinstein-Taybi fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 783 Rubinstein-Taybi syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10536 Diagnostic du syndrome de Miller-Dieker fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 531 Miller-Dieker syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10537 Diagnostic du syndrome de Smith-Magenis fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 819 Smith-Magenis syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10538 Diagnostic du syndrome DiGeorge/velo-cardio-facial fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 567 22q11.2 deletion syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35211 Diagnostic du syndrome de Prader-Willi fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 739 Prader-Willi syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35212 Diagnostic du syndrome d'Angelman fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 72 Angelman syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35213 Recherche des anomalies cryptiques subtélomériques fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 101685 Rare non-syndromic intellectual disability http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54082 Diagnostic du syndrome de Langer-Giedion fr Diagnostic 453358 Post-natal diagnosis 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453351 FISH 2025-02-04 00:00:00.0 502 Trichorhinophalangeal syndrome type 2 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91335 Diagnostic de la maladie de Fabry (gène GLA) fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453345 Sanger sequencing 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453345 Sanger sequencing 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453340 NGS sequencing (except WES) 2025-02-03 00:00:00.0 324 Fabry disease 122153 GLA http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474532 Diagnostic des malformations cardiaques congénitales (Panel) fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453321 Mutation scanning/screening and sequence analysis of selected exons 453340 NGS sequencing (except WES) 2025-02-03 00:00:00.0 88991 Rare congenital non-syndromic heart malformation http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626577 Diagnostic des anomalies de la pigmentation cutanée (Panel) fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453345 Sanger sequencing 453319 Molecular genetics 453321 Mutation scanning/screening and sequence analysis of selected exons 453340 NGS sequencing (except WES) 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453340 NGS sequencing (except WES) 453319 Molecular genetics 453325 Deletion / Duplication analysis 453340 NGS sequencing (except WES) 2025-02-03 00:00:00.0 895 Waardenburg syndrome type 2 381 Griscelli syndrome 2556 Microphthalmia with linear skin defects syndrome 2884 Piebaldism 41 Dyschromatosis symmetrica hereditaria 241 Dyschromatosis universalis hereditaria 69087 Naegeli-Franceschetti-Jadassohn syndrome 79145 Dowling-Degos disease 79146 Familial progressive hyperpigmentation 86920 Dermatopathia pigmentosa reticularis 280628 Familial progressive hyper- and hypopigmentation 324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474529 Diagnostic de l'albinisme (Panel) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453345 Sanger sequencing 453319 Molecular genetics 453321 Mutation scanning/screening and sequence analysis of selected exons 453340 NGS sequencing (except WES) 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453340 NGS sequencing (except WES) 453319 Molecular genetics 453325 Deletion / Duplication analysis 453340 NGS sequencing (except WES) 2025-02-03 00:00:00.0 167 Chédiak-Higashi syndrome 55 Oculocutaneous albinism 54 X-linked recessive ocular albinism 79430 Hermansky-Pudlak syndrome 397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35625 Diagnostic de la mucoviscidose (totalité des régions codantes du gène CFTR) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453345 Sanger sequencing 453319 Molecular genetics 453320 Targeted mutation analysis 453346 PCR based techniques 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453340 NGS sequencing (except WES) 453319 Molecular genetics 453325 Deletion / Duplication analysis 453348 Array based techniques 2025-02-03 00:00:00.0 586 Cystic fibrosis 119382 CFTR External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated External Quality Assesment Online/Validated http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65052 Recherche de microdélétions Yq fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453325 Deletion / Duplication analysis 453346 PCR based techniques 2025-02-03 00:00:00.0 1646 Chromosome Y microdeletion syndrome 120450 USP9Y External Quality Assesment Online/Validated http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=74230 Diagnostic de l'agénésie bilatérale des canaux déférents (gène CFTR) fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453345 Sanger sequencing 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453340 NGS sequencing (except WES) 453319 Molecular genetics 453325 Deletion / Duplication analysis 453348 Array based techniques 2025-02-03 00:00:00.0 48 Congenital bilateral absence of vas deferens 119382 CFTR http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240592 Diagnostic de la surdité génétique syndromique (gènes GJB2, GJB3 et GJB6) fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453346 PCR based techniques 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453345 Sanger sequencing 453319 Molecular genetics 453325 Deletion / Duplication analysis 453348 Array based techniques 2025-02-03 00:00:00.0 477 KID syndrome 2202 Palmoplantar keratoderma-deafness syndrome 494 Keratoderma hereditarium mutilans 2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 317 Erythrokeratodermia variabilis 139512 Neuropathy with hearing impairment 122129 GJB2 122135 GJB3 122142 GJB6 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328867 Diagnostic de la dysplasie ectodermique hidrotique (gène GJB6) fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453345 Sanger sequencing 2025-02-03 00:00:00.0 189 Hidrotic ectodermal dysplasia 122142 GJB6 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328869 Diagnostic de la pancréatite chronique héréditaire (gène CFTR) fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453320 Targeted mutation analysis 453345 Sanger sequencing 453319 Molecular genetics 453320 Targeted mutation analysis 453346 PCR based techniques 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453340 NGS sequencing (except WES) 453319 Molecular genetics 453325 Deletion / Duplication analysis 453348 Array based techniques 2025-02-03 00:00:00.0 676 Autosomal dominant hereditary chronic pancreatitis 119382 CFTR http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556470 Diagnostic de la kératodermie palmoplantaire aquagénique (gène CFTR) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453321 Mutation scanning/screening and sequence analysis of selected exons 453346 PCR based techniques 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453340 NGS sequencing (except WES) 453319 Molecular genetics 453325 Deletion / Duplication analysis 453348 Array based techniques 2025-02-03 00:00:00.0 498359 Aquagenic palmoplantar keratoderma 119382 CFTR http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556476 Diagnostic de l'erythrokératodermie variable (gène GJB3) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453345 Sanger sequencing 2025-02-03 00:00:00.0 317 Erythrokeratodermia variabilis 122135 GJB3 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601774 Diagnostic du syndrome KID (gène GJB2) fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453345 Sanger sequencing 2025-02-03 00:00:00.0 477 KID syndrome 122129 GJB2 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693756 Diagnostic de la dyskinésie ciliaire primitive fr Diagnostic 453358 Post-natal diagnosis 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453340 NGS sequencing (except WES) 2025-02-03 00:00:00.0 244 Primary ciliary dyskinesia 276234 Non-syndromic male infertility due to sperm motility disorder http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693771 Diagnostic des déficiences intellectuelles (ACPA et exome pré et post-natal) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453355 Whole Exome Sequencing (WES) 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453348 Array based techniques 2025-02-05 00:00:00.0 87277 Rare intellectual disability http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693772 Diagnostic des syndromes malformatifs (ACPA et exome pré et post-natal) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453355 Whole Exome Sequencing (WES) 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453348 Array based techniques 2025-02-05 00:00:00.0 93890 Rare developmental defect during embryogenesis http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693773 Diagnostic des troubles du neurodéveloppement (ACPA et exome pré et post-natal) fr Diagnostic 453356 Antenatal diagnosis 453358 Post-natal diagnosis 453319 Molecular genetics 453322 Sequence analysis: entire coding region 453355 Whole Exome Sequencing (WES) 453326 Cytogenetics 453328 Detection of microdeletions/microduplications 453348 Array based techniques 2025-02-05 00:00:00.0 87277 Rare intellectual disability