AP1S1

OMIMHGNC

Synonym(s): AP19, SIGMA1A, WUGSC:H_DJ0747G18.2, CLAPS1, EKV3

Locus: 7q22.1

Protein: AP-1 complex subunit sigma-1A

 

Disorders

Tests

Test Type
Molecular (8)
Multi-Gene Panel (5)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (6)
Prenatal/Carrier
Prenatal (1)
Carrier (5)
Lab Location
Germany(3)
USA(3)
Poland(1)
Spain(1)
 
TAT: 10 weeks
price: contact lab
Congenital Ichthyosis XomeDxSlice
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Skin Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
AP1S1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany
Congenital Ichthyosis, Panel Massive Sequencing (NGS) 33 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks
price: contact lab
Ichthyoses and Related Disorders of Cornification Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
AP1S1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
MEDNIK syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany