IGHM

OMIMHGNC

Locus: 14q32.33

Protein: Immunoglobulin mu-chain D-J4-region

 

Disorders

Tests

Test Type
Molecular (10)
Multi-Gene Panel (9)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (4)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (1)
Sequencing, Next Gen (9)
Prenatal/Carrier
Prenatal (4)
Carrier (6)
Lab Location
USA(1)
Germany(3)
Spain(2)
Portugal(2)
Finland(1)
Austria(1)
 
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
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
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
TAT: 3-4 weeks
price: contact lab
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
Agammaglobulinemia (Agammaglobulinämie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 3-4 weeks
price: contact lab
Agammaglobulinemia type 1, 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