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CANADA

Alberta
EDMONTON

Molecular Diagnosis of Del/Dup 1q21.1 Syndrome
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Williams-Beuren/7q11.23 Microduplication Syndromes
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of 15q11q13 Microduplication Syndrome
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of 22q11.2 Microdeletion Syndrome
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Aminoglycoside-Induced Ototoxicity
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Y Chromosome Microdeletion (AZF microsatellite analysis)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Alpa Thalassemia Intellectual Disability (ATRX sequencing exons 7-9)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Amyotrophic Lateral Sclerosis (SOD1 sequencing, C9ORF72 repeats)
University of Alberta
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Angelman Syndrome
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (TMEM43)
University of Alberta
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis of CFTR-Related Disorder (targeted mutation analysis, sequencing, MLPA)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hereditary Nonsyndromic Deafness (GJB6 common deletions, GJB2 exon 2 sequencing)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of FMR1 Related Disorders (FMR1 triplet repeat analysis)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hereditary Glaucoma (MYOC, CYP1B1 targeted exons)
University of Alberta
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hereditary Non-Polyposis Colorectal Cancer (MLPA, sequencing, targeted mutation analysis MLH1, MSH2, MSH6, PMS2)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hidrotic Ectodermal Dysplasia 2 (GJB6 sequencing exon 3)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hypokalemic Periodic Paralysis (CACNA1S exons 11,30; SCN4A exon 12)
University of Alberta
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Juvenile Hemochromatosis (HFE2 exons 2-4 sequencing)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Mitochondrial Disorder MERFF, MELAS, NARP (MTTK, MTTL1, MTATP6 targeted mutation analysis)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Leber Hereditary Optic Neuropathy (ND1, ND4, ND6 targeted mutation analysis)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Mitochondrial Disorder (muscle mtDNA sequence analysis)
University of Alberta
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency (ACADM targeted mutation analysis)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA targeted mutation analysis)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hereditary Pancreatitis (PRSS1 targeted mutation analysis)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis Prader-Willi syndrome (MLPA/UPD-15 PWSCR)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Steroid Sulfatase Deficiency
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Maternal or Paternal Uniparental Disomy 14
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hereditary Breast and Ovarian Cancer Syndrome - NGS Core Panel (6 genes)
University of Alberta
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), PCR based techniques, MLPA based techniques, Array based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hereditary Breast and Ovarian Cancer Syndrome - NGS Extended Panel (13 genes)
University of Alberta
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), PCR based techniques, MLPA based techniques, Array based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Lynch Syndrome - NGS Panel (5 genes)
University of Alberta
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), PCR based techniques, MLPA based techniques, Array based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hereditary Pancreatic Cancer NGS Panel (14 genes)
University of Alberta
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), PCR based techniques, MLPA based techniques, Array based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Fanconi Anemia/DNA Repair Disorder - NGS Panel (20 genes)
University of Alberta
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), PCR based techniques, MLPA based techniques, Array based techniques

CANADA

Alberta
EDMONTON

Rapid Aneuploidy Detection (13/18/21/X/Y qfPCR analysis)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES), FISH

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Familial Acute Myeloid Leukemia - NGS Panel (3 genes)
University of Alberta
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), PCR based techniques, MLPA based techniques, Array based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Ataxia Telangiectasia (ATM)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Peutz-Jeghers Syndrome (STK11)
University of Alberta
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Li-Fraumeni Syndrome (TP53)
University of Alberta
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of PTEN-Related Disorders
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Endocrine Disorders - NGS Panel (7 genes)
University of Alberta
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), PCR based techniques, MLPA based techniques, Array based techniques