KCNQ1OT1

OMIMHGNC

Synonym(s): KvDMR1, KCNQ1-AS2, KvLQT1-AS, LIT1, NCRNA00012

Locus: 11p15.5

 

Disorders

Tests

Test Type
Molecular (26)
Cytogenetic (1)
Multi-Gene Panel (24)
Multi-Method Panel (10)
Test Method
Del/Dup (CNV) (12)
FISH-Metaphase (1)
Methylation Analysis (17)
Sequencing, Capillary (Sanger) (4)
Genotyping (Microarray, Beads, etc.) (1)
Uniparental Disomy (5)
Sequencing, Next Gen (8)
Prenatal/Carrier
Prenatal (4)
Carrier (7)
Lab Location
Spain(2)
Portugal(3)
Netherlands(3)
Australia(1)
Korea, Republic of(2)
USA(5)
Turkey(1)
Canada(3)
United Kingdom(2)
Greece(1)
Germany(3)
Austria(1)
 
TAT: 4-8 weeks
price: $635.00
Beckwith-Wiedemann Syndrome (Methylation Test)
method(s): ◦ Methylation Analysis 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 4-8 weeks
price: $330.00
Beckwith-Wiedemann Syndrome (UPD Test)
method(s): ◦ Uniparental Disomy 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 2-3 weeks
price: $330.00
Beckwith-Wiedemann Syndrome (Deletion/Duplication Test)
method(s): ◦ Del/Dup (CNV) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 2-4 weeks
price: contact lab
Beckwith-Wiedemann Syndrome Test
method(s): ◦ Methylation Analysis 
Genetics and Molecular Pathology - Melbourne, Australia
Beckwith Wiedemann syndrome test
method(s): ◦ Methylation Analysis 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Russell Silver syndrome test
method(s): ◦ Methylation Analysis 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
FISH-Beckwith-Wiedemann Syndrome
method(s): ◦ FISH-Metaphase 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Beckwith Wiedemann 11p15 Hypomethylation Analysis
method(s): ◦ Methylation Analysis 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 3-4 weeks
price: contact lab
Beckwith-Wiedemann Syndrome: LIT1 Methylation
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-4 weeks
price: contact lab
Beckwith-Wiedemann Syndrome: H19 and LIT1 Methylation Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Beckwith-Wiedemann Syndrome
method(s): ◦ Methylation Analysis ◦ Del/Dup (CNV) ◦ Uniparental Disomy 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
Beckwith-Wiedemann Syndrome, Deletions-Duplications (MLPA) KCNQ1OT1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Beckwith-Wiedemann syndrome (methylation and deletion/duplication analysis of 11p15.5 region)
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis 
CGC Genetics - Porto, Portugal
Isolated hemihyperplasia (methylation analysis of KCNQ1OT1 and H19 genes)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) ◦ Methylation Analysis 
CGC Genetics - Porto, Portugal
Beckwith Wiedemann Syndrome
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
Hemihypertrophy
method(s): ◦ Methylation Analysis 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
TAT: 7-10 days
price: contact lab
Beckwith-Wiedemann Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
TAT: 1-3 weeks
price: contact lab
Beckwith-Wiedemann Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 2-4 weeks
price: contact lab
Chromosome 11p15.5-Related Russell-Silver Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 1-3 weeks
price: contact lab
Russell-Silver Syndrome
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Silver-Russel syndrome (deletion/duplication analysis of 11p15 and methylation analysis of DMR1 (H19) and DMR2 (KCNQ1OT1) regions)
method(s): ◦ Methylation Analysis ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
Macrocephaly and Overgrowth Syndromes: Sequencing and Beckwith-Wiedemann Syndrome Methylation Panel
method(s): ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Beckwith-Wiedemann Syndrome: LIT1 Methylation
method(s): ◦ Methylation Analysis 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-4 weeks
price: contact lab
Comprehensive Metabolic Disease Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 79 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Beckwith-Wiedemann Syndrome, Panel Massive Sequencing (NGS) 4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Beckwith-Wiedemann syndrome (Beckwith-Wiedemann-Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria