AP2S1

OMIMHGNC

Synonym(s): FBHOk, FBH3, CLAPS2, HHC3

Locus: 19q13.32

Protein: AP-2 complex subunit sigma

 

Disorders

Tests

Test Type
Molecular (20)
Multi-Gene Panel (11)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (5)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (8)
Sequencing, Next Gen (10)
Prenatal/Carrier
Prenatal (4)
Carrier (12)
Lab Location
Germany(5)
Portugal(3)
Spain(2)
USA(9)
Austria(1)
 
TAT: 3-4 weeks
price: contact lab
AP2S1 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Hypocalciuric hypercalcemia, familial, type III (sequence analysis of AP2S1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing AP2S1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Skeletal dysplasia with abnormal mineralization Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Familial Hypocalciuric Hypercalcemia (FHH) Type 3, Sequencing AP2S1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
AP2S1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Hypercalcemia (NGS panel for 9 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-8 weeks
price: contact lab
Familial Hypocalciuric hypercalcemia type III, AP2S1 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 3-4 weeks
price: $690.00
Hypercalcemic and Hypocalcemic Disorders via the AP2S1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $770.00
Familial Hypocalciuric Hypercalcemia (FHH) Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Hypoparathyroidism 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: $650.00
Familial Hypocalciuric Hypercalcemia (FHH) via the AP2S1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,390.00
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,690.00
Hypoparathyroidism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Calcium metabolism associated disease (Kalzium Metabolismus assoziierte Erkrankungen)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Hypocalciuric hypercalcemia, familial type 3
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Familial Hypocalciuric Hypercalcemia (FHH), Panel Massive Sequencing AP2S1, CASR, GNA11 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 weeks
price: contact lab
Abnormal mineralization panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4 weeks
price: contact lab
Hyperparathyroidism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA