PIK3R1

OMIMHGNC

Synonym(s): GRB1, p85-ALPHA, p85

Locus: 5q13.1

Protein: Phosphatidylinositol 3-kinase regulatory subunit alpha

 

Disorders

Tests

Test Type
Molecular (31)
Multi-Gene Panel (21)
Multi-Method Panel (9)
Test Method
Del/Dup (CNV) (8)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (9)
Sequencing, Next Gen (21)
Prenatal/Carrier
Prenatal (9)
Carrier (19)
Lab Location
Portugal(4)
Spain(3)
USA(11)
Germany(6)
Finland(1)
Austria(2)
Canada(4)
 
TAT: 12-13 weeks
price: contact lab
Inflammatory Bowel Disease: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 6-8 weeks
price: contact lab
Comprehensive Lipodystrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 6-8 weeks
price: contact lab
Partial Lipodystrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks
price: contact lab
PIK3R1sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
SHORT syndrome (sequence analysis of PIK3R1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Agammaglobulinemia Panel, Sequencing (9 Genes) and Deletion/Duplication (6 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
SHORT Syndrome, Sequencing PIK3R1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-3 weeks
price: contact lab
CNS Tumor Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
SHORT Syndrome
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
University of Texas Southwestern Medical Center - Dallas, Lipodystrophy Laboratory - Dallas, TX, USA
TAT: 11-12 weeks
price: contact lab
PIK3R1 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
PIK3R1 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-6 weeks
price: contact lab
Antibody Deficiencies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 51 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
PIK3R1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Predominantly antibody deficiencies: recurrent bacterial infections – all subtypes (NGS panel of 28 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Predominantly antibody deficiencies: recurrent bacterial infections – significant reduction of IgG, IgA and/or IgM antibodies (NGS panel of 20 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Predominantly antibody deficiencies: recurrent bacterial infections - reduction of IgG, IgA and normal or increased IgM (HIGM) (NGS panel of 5 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: contact lab
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
Glaucoma (Glaukom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Agammaglobulinemia (Agammaglobulinämie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
SHORT syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
CEN4GEN Ovarian cancer: Extended sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CEN4GEN Colorectal cancer: Extended Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CEN4GEN Colorectal cancer: Extended Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CEN4GEN Breast cancer: Extended Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: ~2 weeks
price: contact lab
Immunodeficiency type 36
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Agammaglobulinemia type 7, autosomal recessive
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 7-8 weeks
price: contact lab
Agammaglobulinemia panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany