x

Search for a diagnostic test

* (*) mandatory field

45 Result(s)

List of diseases tested (171)

3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acyl-CoA dehydrogenase 9 deficiency
Adult polyglucosan body disease
Adult-onset autosomal recessive sideroblastic anemia
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Alpers-Huttenlocher syndrome
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic form
Autosomal dominant progressive external ophthalmoplegia
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive spastic paraplegia type 77
Barth syndrome
Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Bile acid CoA ligase deficiency and defective amidation
Biliary atresia with splenic malformation syndrome
Biotin-thiamine-responsive basal ganglia disease
Björnstad syndrome
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine-acylcarnitine translocase deficiency
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Cerebrotendinous xanthomatosis
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood-onset spasticity with hyperglycinemia
Classic galactosemia
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 23
Combined oxidative phosphorylation defect type 25
Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 8
Congenital bile acid synthesis defect type 1
Congenital bile acid synthesis defect type 2
Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 4
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
DNA2-related mitochondrial DNA deletion syndrome
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Dubin-Johnson syndrome
Early myoclonic encephalopathy
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Erythrocyte galactose epimerase deficiency
Ethylmalonic encephalopathy
Familial hypercholanemia
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fatal infantile cytochrome C oxidase deficiency
Fatal infantile lactic acidosis with methylmalonic aciduria
Fructose-1,6-bisphosphatase deficiency
Fumaric aciduria
GRACILE syndrome
Galactokinase deficiency
Generalized galactose epimerase deficiency
Glucose-galactose malabsorption
Glycogen storage disease due to GLUT2 deficiency
Glycogen storage disease due to glycogen branching enzyme deficiency
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hereditary North American Indian childhood cirrhosis
Hereditary fructose intolerance
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Infantile cerebellar-retinal degeneration
Infantile onset spinocerebellar ataxia
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Intrahepatic cholestasis of pregnancy
Isolated complex I deficiency
Isolated complex III deficiency
Isolated cytochrome C oxidase deficiency
Isolated succinate-CoQ reductase deficiency
Kearns-Sayre syndrome
Leber hereditary optic neuropathy
Leber plus disease
Leigh syndrome
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
Leigh syndrome with nephrotic syndrome
Lethal infantile mitochondrial myopathy
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Lipoic acid synthetase deficiency
Lipoyl transferase 1 deficiency
Lipoyl transferase 2 deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
MEGDEL syndrome
MELAS
MERRF
Maternally-inherited diabetes and deafness
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial DNA-related cardiomyopathy and hearing loss
Mitochondrial DNA-related progressive external ophthalmoplegia
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial myopathy and sideroblastic anemia
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial non-syndromic sensorineural deafness
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Mitochondrial pyruvate carrier deficiency
Mitochondrial trifunctional protein deficiency
Multiple mitochondrial dysfunctions syndrome
Multiple mitochondrial dysfunctions syndrome type 1
Multiple mitochondrial dysfunctions syndrome type 2
Multiple mitochondrial dysfunctions syndrome type 3
Multiple mitochondrial dysfunctions syndrome type 4
Myopathy and diabetes mellitus
NARP syndrome
Navajo neurohepatopathy
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Pearson syndrome
Periodic paralysis with later-onset distal motor neuropathy
Perrault syndrome
Pontocerebellar hypoplasia type 6
Postural orthostatic tachycardia syndrome due to NET deficiency
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 5
Progressive polyneuropathy with bilateral striatal necrosis
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase phosphatase deficiency
Recessive mitochondrial ataxia syndrome
Renal tubulopathy-encephalopathy-liver failure syndrome
Rotor syndrome
SURF1-related Charcot-Marie-Tooth disease type 4
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Severe X-linked mitochondrial encephalomyopathy
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Spinocerebellar ataxia with epilepsy
Systemic primary carnitine deficiency
TMEM70-related mitochondrial encephalo-cardio-myopathy
Thiamine-responsive encephalopathy
Tyrosinemia type 1
Very long chain acyl-CoA dehydrogenase deficiency
Wilson disease
By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (45)

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of glycogen storage disease type 3
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of glycogen storage disease type 4
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of hereditary fructose intolerance (ALDOB gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
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

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of systemic carnitine deficiency (SLC22A5 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of galactosemia (GALT and GALK1 genes)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of carnitine palmitoyl transferase 2 deficiency (CPT2 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of carnitine-acylcarnitine translocase deficiency (SLC25A20 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of carnitine palmitoyl transferase 1 deficiency (CPT1A gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of congenital lactic acidosis
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of mitochondrial trifunctional protein deficiency (HADHA and HADHB genes)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Protein expression
Technique(s) : NGS sequencing (except WES), Western Blot

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Analyte / Enzyme assay
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of ATP synthetase deficiency
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of CoQ cytochrome c reductase deficiency (BCS1L gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of cytochrome c oxidase deficiency (SURF1, COX10, COX15, SCO1, SCO2 genes)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of Kearns-Sayre syndrome (mtDNA)
CHU Paris-Sud - Hôpital de Bicêtre
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
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of Leigh disease
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of MELAS syndrome (MT-TL1 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of MERRF syndrome (MT-TK gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of NARP syndrome (MT-ATP6 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of Nadh Coq reductase deficiency
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of Pearson syndrome (mtDNA)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of pyruvate dehydrogenase deficiency (DLAT, PDHA1, PDHB, PDHX, DLD and PDP1 genes)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of very long-chain acyl-CoA dehydrogenase deficiency (ACADVL and ACAD9 genes)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of mitochondrial DNA depletion syndrome (TK2, DGUOK, POLG, MPV17, TYMP genes)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of tyrosinemia type 1 (FAH gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Newborn screening
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

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of congenital bile acid synthesis defect types 1 and 2 (HSD3B7 and AKR1D1 genes)
CHU Paris-Sud - Hôpital de Bicêtre
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

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of fructose-1,6-bisphosphatase deficiency (FBP1 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of Bickel-Fanconi glycogenosis (SLC2A2 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of 3-hydroxy 3-methylglutaryl-CoA synthase deficiency (HMGCS2 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of benign recurrent intrahepatic cholestasis (ATP8B1 & ABCB11 genes)
CHU Paris-Sud - Hôpital de Bicêtre
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
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of predisposition to biliary atresia splenic malformation syndrome (CFC1 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis, Risk assessment
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

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of acute infantile liver failure due to mtDNA-encoded proteins synthesis defect (TRMU gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of glucose-galacose malabsorbtion (SLC5A1 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of thiamine metabolism dysfunction syndrome 4 (SLC25A19 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of fatal multiple mitochondrial dysfunction syndrome (BOLA3, IBA57 and NFU1 genes)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of fumaric aciduria (FH gene)
CHU Paris-Sud - Hôpital de Bicêtre
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), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of childhood encephalopathy due to thiamine pyrophosphokinase deficiency (TPK1 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of lipoyl transferase 1 deficiency (LIPT1 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
'Diagnosis of pyruvate caboxylase defect (PC gene: entire coding sequence ; enzymatic test on fibroblasts cultures)'
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of lipoyl transferase 2 deficiency (LIPT2 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of mitochondrial pyruvate carrier deficiency (MPC1 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of mitochondrial diseases (Panel)
CHU Paris-Sud - Hôpital de Bicêtre
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
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of metabolic liver diseases (Panel)
CHU Paris-Sud - Hôpital de Bicêtre
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
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of mitochondrial disease (exhaustive study of mtDNA by NGS and Surveyor technics)
CHU Paris-Sud - Hôpital de Bicêtre
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), Sanger sequencing