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28 Result(s)

List of diseases tested (97)

17p11.2 microduplication syndrome
ADNP syndrome
Adult-onset autosomal dominant leukodystrophy
Aicardi-Goutières syndrome
Alexander disease
Allan-Herndon-Dudley syndrome
Alpha-thalassemia-X-linked intellectual disability syndrome
Angelman syndrome due to imprinting defect in 15q11-q13
Aquagenic palmoplantar keratoderma
Atypical Rett syndrome
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant popliteal pterygium syndrome
Autosomal recessive non-syndromic intellectual disability
Autosomal uniparental disomy
Benign familial infantile epilepsy
Benign familial neonatal-infantile seizures
Beta-propeller protein-associated neurodegeneration
CACH syndrome
Childhood absence epilepsy
Christianson syndrome
Classic glucose transporter type 1 deficiency syndrome
Coffin-Siris syndrome
Congenital bilateral absence of vas deferens
Continuous spikes and waves during sleep
Cornelia de Lange syndrome
Craniofrontonasal dysplasia
Craniopharyngioma
Cystic fibrosis
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Dravet syndrome
Early infantile epileptic encephalopathy
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
FRAXE intellectual disability
Familial exudative vitreoretinopathy
Fragile X syndrome
Fraser syndrome
Generalized epilepsy with febrile seizures-plus
Hamel cerebro-palato-cardiac syndrome
Hereditary chronic pancreatitis
Hereditary cryohydrocytosis with reduced stomatin
Infantile convulsions and choreoathetosis
Infantile spasms syndrome
Intellectual disability syndrome due to a DYRK1A point mutation
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
KBG syndrome
KDM5C-related syndromic X-linked intellectual disability
Landau-Kleffner syndrome
Lujan-Fryns syndrome
Microduplication Xp11.22p11.23 syndrome
Microphthalmia, Lenz type
Milroy disease
Monosomy 22q13.3
Multiple osteochondromas
NON RARE IN EUROPE: Hemochromatosis type 1
NON RARE IN EUROPE: Non rare thrombophilia
Nicolaides-Baraitser syndrome
Non-specific early-onset epileptic encephalopathy
PMP22-RAI1 contiguous gene duplication syndrome
Pachydermoperiostosis
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
Pelizaeus-Merzbacher disease
Pitt-Hopkins syndrome
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
Prediction of 5-fluorouracil toxicity
Proximal Xq28 duplication syndrome
Rare genetic developmental defect during embryogenesis
Rett syndrome
Rolandic epilepsy
Rolandic epilepsy-speech dyspraxia syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Schinzel-Giedion syndrome
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
Smith-Magenis syndrome
Spastic paraplegia type 2
Steinert myotonic dystrophy
Trichorhinophalangeal syndrome type 1 and 3
Van der Woude syndrome
Wiedemann-Steiner syndrome
X-linked creatine transporter deficiency
X-linked intellectual disability due to GRIA3 mutations
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-hypotonia-movement disorder syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked non-syndromic intellectual disability
By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (28)

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of cystic fibrosis (CFTR gene)
Centre de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Steinert myotonic dystrophy (DMPK gene)
Centre de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

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

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of hemochromatosis (HFE gene)
Centre de Biologie
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Pelizaeus-Merzbacher disease (PLP1 gene)
Centre de Biologie
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, MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnostic des paraplégies spastiques liées à l'X type 2 (gène PLP1)
Centre de Biologie
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, MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of uniparental disomies of chromosomes 7, 14 and 15
Centre de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Alexander disease (GFAP gene)
Centre de Biologie
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of CACH syndrome (Panel)
Centre de Biologie
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
Technique(s) : Sanger sequencing, PCR based techniques, Whole Exome Sequencing (WES)

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Angelman syndrome (SNRPN gene)
Centre de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene)
Centre de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of craniofrontonasal dysplasia (EFNB1 gene)
Centre de Biologie
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
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Aicardi-Goutieres syndrome (Panel)
Centre de Biologie
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
Technique(s) : Sanger sequencing, Whole Exome Sequencing (WES)

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of congenital bilateral absence of vas deferens (CFTR gene)
Centre de Biologie
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
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of non rare thrombophilia (F2, F5 and MTHFR genes)
Centre de Biologie
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Fraser syndrome (Panel)
Centre de Biologie
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
Technique(s) : Sanger sequencing, Whole Exome Sequencing (WES)

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of FRAXE intellectual deficiency (AFF2 gene)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of multiple osteochondromas (Panel)
Centre de Biologie
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, Whole Exome Sequencing (WES)

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of adult-onset autosomal dominant leukodystrophy (LMNB1 gene)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Van Der Woude syndrome (IRF6 gene)
Centre de Biologie
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
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of hereditary chronic pancreatitis (CFTR gene)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of intellectual disability (Panel ID46)
Centre de Biologie
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Milroy disease (FLT4 gene)
Centre de Biologie
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) : NGS sequencing (except WES), Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of pachydermoperiostosis (HPGD and SLCO2A1 genes)
Centre de Biologie
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Pharmacogenetics analysis of DPYD gene
Centre de Biologie
Purpose(s) : Post-natal diagnosis, Pharmacogenetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of aquagenic palmoplantar keratoderma (CFTR gene)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, Whole Exome Sequencing (WES)

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of trichorhinophalangeal syndrome type 1 and 3 (TRPS1 gene)
Centre de Biologie
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, MLPA based techniques