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44 Result(s)

List of diseases tested (226)

17p11.2 microduplication syndrome
45,X/46,XY mixed gonadal dysgenesis
46,XX testicular disorder of sex development
46,XY complete gonadal dysgenesis
9q33.3q34.11 microdeletion syndrome
APC-related attenuated familial adenomatous polyposis
ARX-related encephalopathy-brain malformation spectrum
AXIN2-related attenuated familial adenomatous polyposis
Achondroplasia
Acrodysostosis
Acromegaly
Allan-Herndon-Dudley syndrome
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Alpha-thalassemia-X-linked intellectual disability syndrome
Angelman syndrome
Angelman syndrome due to a point mutation
Angelman syndrome due to imprinting defect in 15q11-q13
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Anoctamin-5-related limb-girdle muscular dystrophy R12
Atypical Rett syndrome
Autosomal dominant hypocalcemia
Autosomal dominant hypophosphatemic rickets
Autosomal dominant non-syndromic intellectual disability
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive hypophosphatemic rickets
Autosomal recessive infantile hypercalcemia
Autosomal recessive non-syndromic intellectual disability
Becker muscular dystrophy
Benign familial infantile epilepsy
Benign familial neonatal epilepsy
Benign familial neonatal-infantile seizures
Beta-propeller protein-associated neurodegeneration
Bilateral generalized polymicrogyria
Bilateral striopallidodentate calcinosis
Blomstrand lethal chondrodysplasia
Brachydactyly type E
CDKL5-related epileptic encephalopathy
CHARGE syndrome
CINCA syndrome
Calpain-3-related limb-girdle muscular dystrophy R1
Carney complex
Carpenter-Waziri syndrome
Childhood absence epilepsy
Christianson syndrome
Chudley-Lowry-Hoar syndrome
Classic glucose transporter type 1 deficiency syndrome
Coffin-Siris syndrome
Congenital bilateral absence of vas deferens
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy, Ullrich type
Continuous spikes and waves during sleep
Cornelia de Lange syndrome
Cowden syndrome
Cushing syndrome due to macronodular adrenal hyperplasia
Cystic fibrosis
DNAJB6-related limb-girdle muscular dystrophy D1
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Dentin dysplasia type I
Dentin dysplasia type II
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Desminopathy
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Distal anoctaminopathy
Distal myopathy with anterior tibial onset
Distal myopathy, Tateyama type
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Dravet syndrome
Duchenne and Becker muscular dystrophy
Duchenne muscular dystrophy
Dysferlin-related limb-girdle muscular dystrophy R2
Early infantile epileptic encephalopathy
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Emery-Dreifuss muscular dystrophy
FKRP-related limb-girdle muscular dystrophy R9
Facioscapulohumeral dystrophy
Familial Mediterranean fever
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial cold urticaria
Familial exudative vitreoretinopathy
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial isolated dilated cardiomyopathy
Familial isolated hyperparathyroidism
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Familial isolated hypoparathyroidism due to impaired PTH secretion
Familial isolated pituitary adenoma
Familial multiple meningioma
Familial or sporadic hemiplegic migraine
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
Fukutin-related limb-girdle muscular dystrophy R13
GMPPB-related limb-girdle muscular dystrophy R19
GNE myopathy
Gardner syndrome
Generalized arterial calcification of infancy
Generalized epilepsy with febrile seizures-plus
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, late-onset
Gnathodiaphyseal dysplasia
Hamel cerebro-palato-cardiac syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary chronic pancreatitis
Hereditary cryohydrocytosis with reduced stomatin
Hereditary hypophosphatemic rickets with hypercalciuria
Hereditary site-specific ovarian cancer syndrome
Holmes-Gang syndrome
Hyperimmunoglobulinemia D with periodic fever
Hyperparathyroidism-jaw tumor syndrome
Hypocalcemic vitamin D-dependent rickets
Hypocalcemic vitamin D-resistant rickets
Hypocalcified amelogenesis imperfecta
Hypomaturation amelogenesis imperfecta
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Hypoplastic amelogenesis imperfecta
Infantile convulsions and choreoathetosis
Insulinoma
Intellectual disability syndrome due to a DYRK1A point mutation
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
Isolated asymptomatic elevation of creatine phosphokinase
Juberg-Marsidi syndrome
Juvenile polyposis syndrome
KBG syndrome
KCNQ2-related epileptic encephalopathy
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Kallmann syndrome
Laminin subunit alpha 2-related congenital muscular dystrophy
Landau-Kleffner syndrome
Legius syndrome
Lennox-Gastaut syndrome
Lethal osteosclerotic bone dysplasia
Lynch syndrome
MSH3-related attenuated familial adenomatous polyposis
MUTYH-related attenuated familial adenomatous polyposis
Malignant migrating focal seizures of infancy
Metaphyseal chondrodysplasia, Jansen type
Mevalonic aciduria
Microphthalmia, Lenz type
Mild hemophilia A
Mild hemophilia B
Miyoshi myopathy
Moderately severe hemophilia A
Moderately severe hemophilia B
Muckle-Wells syndrome
Muir-Torre syndrome
Multiple endocrine neoplasia type 1
NON RARE IN EUROPE: Gilbert syndrome
NON RARE IN EUROPE: Primary ovarian failure
NTHL1-related attenuated familial adenomatous polyposis
Neonatal severe primary hyperparathyroidism
Neurofibromatosis type 1
Neurofibromatosis type 2
Normosmic congenital hypogonadotropic hypogonadism
Null pituitary adenoma
Occipital pachygyria and polymicrogyria
Ondine syndrome
PMP22-RAI1 contiguous gene duplication syndrome
Parathyroid carcinoma
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
Partial chromosome Y deletion
Peutz-Jeghers syndrome
Pitt-Hopkins syndrome
Polymerase proofreading-related adenomatous polyposis
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal 15q11q13 deletion
Prader-Willi syndrome due to translocation
Primary dystonia, DYT27 type
Primary failure of tooth eruption
Primary pigmented nodular adrenocortical disease
Prolactinoma
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1C
Pseudopseudohypoparathyroidism
Qualitative or quantitative defects of sarcoglycan
Reducing body myopathy
Rett syndrome
Rippling muscle disease
Rolandic epilepsy
Rolandic epilepsy-speech dyspraxia syndrome
Romano-Ward syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Schwannomatosis
Severe hemophilia A
Severe hemophilia B
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Severe intellectual disability-progressive spastic diplegia syndrome
Severe neonatal-onset encephalopathy with microcephaly
Silent pituitary adenoma
Smith-Fineman-Myers syndrome
Smith-Magenis syndrome
Sotos syndrome
Symptomatic form of hemophilia A in female carriers
Symptomatic form of hemophilia B in female carriers
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Syndromic X-linked intellectual disability due to JARID1C mutation
Temple syndrome due to paternal 14q32.2 hypomethylation
Trisomy Xq28
Tumor necrosis factor receptor 1 associated periodic syndrome
Turcot syndrome with polyposis
Undetermined early-onset epileptic encephalopathy
Uniparental disomy of chromosome 14
West syndrome
Wiedemann-Steiner syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked creatine transporter deficiency
X-linked hypophosphatemia
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Porteous type
X-linked intellectual disability, Sutherland-Haan type
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked myopathy with postural muscle atrophy
X-linked non-syndromic intellectual disability
X-linked scapuloperoneal muscular dystrophy
By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (44)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of cystic fibrosis (exhaustive search for mutations of CFTR gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of male infertility causes by search of chromosome Y deletion (DAZ1 gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of familial mediterranean fever (MEFV gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of facioscapulohumeral muscular dystrophy (DUX4L1 gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of uniparental disomy of chromosomes 14
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of typical and atypical Rett syndrome (MECP2 and FOXG1 genes)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of TRAPS syndrome (TNFRSF1A gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of LGMD2B by analyzing dysferlin (Western-Blot)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of mevalonate kinase deficiency (MVK gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Muckle-Wells, CINCA and FCU syndrome (NLRP3/CIAS1 gene: specific exon sequencing)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Duchenne and Becker muscular dystrophy by study of dystrophin based on muscular biopsy (Western-Blot)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Emery-Dreifuss muscular distrophy by study of emerin (Western-Blot on lymphoblasts)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of autosomal recessive type 2I limb girdle muscular dystrophy : study of alphadystroglycan protein on muscular biopsy
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Gilbert syndrome (UGT1A1 gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of congenital bilateral absence of vas deferens (CFTR gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of fragile X-associated tremor/ataxia syndrome FXTAS (FMR1 gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of ARX-related epileptic encephalopathies (ARX gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of LGMD2D, LGMD2C, LGMD2E and LGMD2F (alpha-sarcoglycane, gamma-sarcoglycane, beta-sarcoglycane and delta-sarcoglycane on muscular biopsie by Western-blot)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of fragile X syndrome (FMR1 gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of primary ovarian failure (FMR1 gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of calcium metabolism anomalies (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of congenital hypogonadotropic hypogonadism (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of adrenal tumors and related disorders (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hemophilia (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hereditary chronic pancreatitis (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hereditary nonpolyposis colon cancer (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of neurofibromatosis type 1 and neurofibromatosis 1-like syndrome (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of neurofibromatosis type 2, schwannomatosis and related disorders (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of phosphate metabolism anomalies (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of primary ovarian failure (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of endocrine diseases (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Sotos syndrome (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of familial adenomatous polyposis (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Peutz-Jeghers syndrome (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of LGMD2A by analyzing calpain (Western-Blot)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of MCD1A by analyzing merosin (Western-Blot)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Noninvasive diagnosis in the maternal blood of achondroplasia (FGFR3 gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Noninvasive diagnosis of foetal sex in the maternal blood : Search for sequences SRY
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of intellectual disability and autism spectrum disorder (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of dystrophinopathy (Duchenne / Becker muscular dystrophy) and limb girdle muscular dystrophy (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Exploration of mineral metabolism (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of predisposition to breast and ovarian cancer (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)