CCBE1

OMIMHGNC

Synonym(s): FLJ30681, KIAA1983

Locus: 18q21.32

Protein: Collagen and calcium-binding EGF domain-containing protein 1

 

Disorders

Tests

Test Type
Molecular (20)
Multi-Gene Panel (11)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (5)
Sequencing, Capillary (Sanger) (8)
Sequencing, Next Gen (11)
Prenatal/Carrier
Prenatal (8)
Carrier (9)
Lab Location
Netherlands(2)
Spain(2)
Portugal(3)
USA(9)
United Kingdom(1)
Germany(3)
 
TAT: 4-8 weeks
price: $635.00
Analysis CCBE1 gene (Hennekam Lymphangiectasia-Lymphedema Syndrome 1)
method(s): ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Hennekam Lymphangiectasia-Lymphedema Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
Hennekam Syndrome, Sequencing CCBE1 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 8-10 weeks
price: contact lab
NGS Non-immune Hydrops Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
Lymphedema-Lethal Restrictive Dermopathy, Panel Massive Sequencing (NGS) 9 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Hennekam syndrome (sequence analysis of CCBE1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Vascular and lymphatic disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 11-13 weeks
price: $1,880.00
Analysis Lymphedema Genes (NGS panel 36 genes)
method(s): ◦ Sequencing, Next Gen 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 4-6 weeks
price: contact lab
CCBE1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-5 Weeks
price: contact lab
CCBE1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
CID with associated or syndromic features – All subtypes (NGS panel of 45 genes and deletion of 22q11.2 by MLPA)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
CID with associated or syndromic features – other syndromes (NGS panel of 16 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: $690.00
Hennekam Lymphangiectasia-Lymphedema Syndrome via the CCBE1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Lymphedema Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $750.00
Hennekam Lymphangiectasia-Lymphedema Syndrome via the CCBE1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,940.00
Lymphedema Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 8-10 weeks
price: contact lab
NGS Vascular Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 3-4 weeks
price: contact lab
Hennekam lymphangiectasia-lymphedema syndrome type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
Mental Retardation - different panels
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Cologne University, Institute of Human Genetics - Cologne, Germany