VPS45

OMIMHGNC

Synonym(s): h-vps45, H1, VPS45B, VPS45A

Locus: 1q21.2

Protein: Vacuolar protein sorting-associated protein 45

 

Disorders

Tests

Test Type
Molecular (23)
Multi-Gene Panel (18)
Multi-Method Panel (6)
Test Method
Del/Dup (CNV) (9)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (4)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (17)
Prenatal/Carrier
Prenatal (9)
Carrier (14)
Lab Location
USA(16)
Portugal(2)
Germany(4)
Austria(1)
 
TAT: 6-7 weeks
price: contact lab
Bone Marrow Failure Syndromes Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 8-9 weeks
price: contact lab
Inherited Neutropenia Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-6 weeks
price: contact lab
VPS45 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks
price: contact lab
Bone Marrow Failure Syndromes Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-6 weeks
price: contact lab
Inherited Bone Marrow Failure Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 6-8 weeks
price: contact lab
Severe Congenital Neutropenia Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks
price: contact lab
VPS45 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 8-9 weeks
price: contact lab
Hereditary neutropenia (NGS panel for 22 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Defects of Phagocytosis Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
VPS45
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 weeks
price: contact lab
Severe Congenital Neutropenia Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
Congenital defects of phagocyte number and/or function – With neutropenia (NGS panel of 15 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: $970.00
Severe Congenital Neutropenia via the VPS45 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
Severe Congenital Neutropenia Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Neutropenia, severe congenital (Neutropenie, schwere kongenitale)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 3-4 weeks
price: contact lab
Neutropenia, severe congenital type 5, autosomal recessive
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 7-8 weeks
price: contact lab
Bone marrow failure panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3 weeks
price: contact lab
Congenital Neutropenia Panel
method(s): ◦ Sequencing, Next Gen 
Diagnostic Labs at BloodCenter of Wisconsin - Milwaukee, WI, USA
TAT: 4-5 weeks
price: contact lab
Congenital neutropenia panel
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 5-6 weeks
price: contact lab
Comprehensive Inherited Bone Marrow Failure Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 5-6 weeks
price: contact lab
Severe Congenital Neutropenia Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Phagocyte Defects Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA