Orphanet: Simple search
x

Search for a diagnostic test

* (*) mandatory field

39 Result(s)

List of diseases tested (61)

15q11q13 microduplication syndrome
1q21.1 microdeletion syndrome
1q21.1 microduplication syndrome
22q11.2 deletion syndrome
7q11.23 microduplication syndrome
ATR-X-related syndrome
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Amyotrophic lateral sclerosis
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Ataxia-telangiectasia
Autosomal recessive non-syndromic sensorineural deafness type DFNB
Baller-Gerold syndrome
Bloom syndrome
Carney complex
Congenital bilateral absence of vas deferens
Cystic fibrosis
Down syndrome
Familial hypocalciuric hypercalcemia type 1
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated hyperparathyroidism
Familial isolated pituitary adenoma
Familial pancreatic carcinoma
Familial platelet disorder with associated myeloid malignancy
Fanconi anemia
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
Hemochromatosis type 2
Hereditary breast and ovarian cancer syndrome
Hereditary chronic pancreatitis
Hidrotic ectodermal dysplasia
Hypokalemic periodic paralysis
Inherited acute myeloid leukemia
Leber hereditary optic neuropathy
Li-Fraumeni syndrome
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Lynch syndrome
MELAS
MERRF
Medium chain acyl-CoA dehydrogenase deficiency
Mitochondrial non-syndromic sensorineural deafness
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
NARP syndrome
NON RARE IN EUROPE: Primary ovarian failure
Nijmegen breakage syndrome
PTEN hamartoma tumor syndrome
Partial chromosome Y deletion
Peutz-Jeghers syndrome
Prader-Willi syndrome
Primary early-onset glaucoma
RAPADILINO syndrome
Recessive X-linked ichthyosis
Rothmund-Thomson syndrome type 2
Sex-chromosome number anomaly
Trisomy 13
Trisomy 18
Uniparental disomy of chromosome 14
Williams syndrome
By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (39)

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