x

Search for a diagnostic test

* (*) mandatory field

32 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Huntington disease (HTT triplet repeat analysis)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

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

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Fragile X E intellectual disability (FRAXE) AFF2 triplet repeat analysis)
Health Sciences Centre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Analysis for Susceptibility to Ankylosing Spondylitis (HLAB27)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Cystic Fibrosis (CFTR 39 mutations panel)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : NGS sequencing (except WES)

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of KRAS Mutation in Colorectal Cancer (targeted mutation analysis)
Health Sciences Centre
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Familial Hypertrophic Cardiomyopathy (MYBPC3 c.2864_2865delCT mutation)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Hereditary Hemochromatosis (HFE C282Y, H63D mutations)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Attenuated Familial Adenomatous Polyposis (MUTYH p.Y165C; p.G382D mutations)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis Multiple Endocrine Neoplasia type 1 (MEN1 p.R465* mutation)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Predisposition to Thrombophilia (FVL, F2 c.*97G>A)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Hereditary Breast Cancer (BRCA1 c.2071delA mutation)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Arrhythmogenic Right Ventricular Dysplasia (TMEM43 c.1073C>T)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Chronic Myeloid Leukemia (BCR-ABL PCR)
Health Sciences Centre
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Myeloproliferative Disorder (JAK2 V617F mutation analysis)
Health Sciences Centre
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Acute Promyelocytic Leukemia (PML/RARA PCR)
Health Sciences Centre
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Hereditary Nonpolyposis Colon Cancer (MSH2 c.942+3A>T mutation)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Nonsyndromic Hearing Loss (GJB2 c.35delG mutation)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Hemophilia A (F8 c.6104T>C mutation)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Hereditary Gastric Cancer (CDH1 6 targeted mutations analysis)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of Prader Willi/Angelman Syndrome (mFISH SNRPN probe analysis)
Health Sciences Centre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of Smith-Magenis Syndrome (mFISH SMS probe analysis)
Health Sciences Centre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of 22q11 Deletion Syndrome (mFISH HIRA probe analysis)
Health Sciences Centre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of Williams Syndrome (mFISH ELN probe analysis)
Health Sciences Centre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of SRY-Related Gonadal Disorder (mFISH SRY probe analysis)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of Myelodysplastic Syndrome (5q,7q deletion analysis by FISH)
Health Sciences Centre
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of Chronic Myeloid Leukemia (FISH analysis BCR/ABL)
Health Sciences Centre
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of Acute Myeloid Leukemia (MLL, PML/RARA, BCR/ABL, CBFB, AML/ETO analysis by FISH)
Health Sciences Centre
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of Acute Lymphoblastic Leukemia (BCR/ABL, MLL break-apart FISH)
Health Sciences Centre
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of Trisomy 21 (LSI 21 FISH)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of Partial Chromosome Deletion/Duplication (subtelomeric FISH)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Rapid Aneuploidy Detection (qfPCR)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics