Orphanet: Simple search
x

Search for a diagnostic test

* (*) mandatory field

74 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of Prader-Willi syndrome (15q11-13)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of Angelman syndrome (15q11-13)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of hereditary breast and ovarian cancer predisposition syndrome
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of Charcot-Marie-Tooth disease type 1A (PMP22 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnostic de la délétion partielle du chromosome Y (azoo / oligospermie, microdélétion de 3 régions du chromosome Y AZFa, b et c)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of cystic fibrosis (CBAVD inclusive, CFTR gene)
University Hospitals Leuven - Gasthuisberg
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

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of fragile X syndrome (FMR1 gene, CGG repeat expansion)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Friedreich ataxia (FRDA gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Gilbert syndrome (UGT1A1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of hemochromatosis type 1 (HFE1 gene, hot spot mutations - p.Cys282Tyr; p.His63Asp )
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Nonpolyposis colon cancer (MLH1, MSH2, MSH6, TACSTD1 genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of Huntington disease (HTT gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Kennedy disease (AR gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of LEOPARD syndrome (PTPN11 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Long QT syndrome (KCNQ1, KCNH2 genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Multiple endocrine neoplasia type 1 (MEN1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of multiple endocrine neoplasia type 2 (RET gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of Steinert myotonic dystrophy (DMPK gene, CTG repeat expansion)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Oculopharyngeal muscular dystrophy (PABPN1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Optic nerve coloboma with renal disease (PAX2 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Rett syndrome (MECP2 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of proximal spinal muscular atrophy (SMN1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of Von Hippel-Lindau disease (VHL gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of Duchenne and Becker muscular dystrophy
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of hereditary cardiopathies (panel of 92 genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Brugada syndrome (SNC5A gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Alpha1-antitrypsine deficiency (SERPINA1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of ALS, amyotrophic lateral sclerosis (SOD1, TDP43, FUS, ANG genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (11p15.5: LIT1, H19 genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Cardiofaciocutaneous syndrome (BRAF, KRAS, MEK1, MEK2 genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Costello syndrome (HRAS gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Cowden syndrome (PTEN gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Familial melanoma (CDKN2A gene (p16, p14-ARF))
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of FXTAS syndrome (FMR1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Hereditary chronic pancreatitis (SPINK, CFTR genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Non rare thrombophilia (R506Q - Factor V Leiden)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Gonadal dysgenesis (SRY)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Hemophilia A (F8 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Hemophilia B (F9 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Li-Fraumeni syndrome (TP53 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Noonan syndrome (PTPN11 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Primary pulmonary hypertension (BMPR2, ALK1, ENG genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of familial adenomatous polyposis (MUTYH gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Silver Russel syndrome (11p15.5: LIT1 & H19 genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Autosomal dominant spastic paraplegia type 4 (SPG4 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Hirschsprung disease (RET gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Thiopurine s-methyltransferase deficiency (TPMT gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Pharmacogenetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of spinocerebellar ataxia type 1 (ATX1 gene, CAG repeat expansion)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of spinocerebellar ataxia type 2 (ATX2 gene, CAG repeat expansion)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of spinocerebellar ataxia type 3 (ATX3 gene, CAG repeat expansion)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene, CAG repeat expansion)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of spinocerebellar ataxia type 7 (ATXN7 gene, CAG repeat expansion)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Non rare thrombophilia (Factor II 20210G>A variant)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Non rare thrombophilia (MTHFR C677T variant)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Hyperlipidemia type 3 (ApoE gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1a (PMM2 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1b (MPI gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1c (ALG6 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1d (ALG3 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1e (DPM1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1f (MPDU1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1g (ALG12 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1h (ALG8 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1i (ALG2 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1j (DPAGT1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1k (ALG1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 1l (ALG9 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 2e (COG7 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of CDG syndrome 2h (COG8 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Homocystinuria due to methylenetetrahydrofolate reductase deficiency (MTHFR gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5; MODY5 (HNF1B gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of familial hypercholesterolemia (gene panel)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis, Pre-symptomatic 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

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of retinoblastoma (RB1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing