CD40

OMIMHGNC

Synonym(s): p50, Bp50, TNFRSF5

Locus: 20q13.12

Protein: CD40 protein

 

Disorders

Tests

Test Type
Molecular (16)
Multi-Gene Panel (11)
Multi-Method Panel (10)
Test Method
Del/Dup (CNV) (8)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (13)
Prenatal/Carrier
Prenatal (9)
Carrier (10)
Lab Location
Spain(5)
USA(5)
Germany(4)
Finland(2)
 
TAT: 9-10 weeks
price: contact lab
NGS of 27 genes: BLK, C5, CCL21, CCR6, CD2, CD28, CD40, CD58, IL2, IL21, IL2RA, IL2RB, IL6ST, IRF5, PRDM1, PRKCQ, PTPRC,RAG1, RBPJ, STAT4, RAG1,TAGAP, TNFAIP3,TNFRSF14,TRAF1, TRAF3IP2, TRAF6, VAMP2
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 40 genes: AGRN, BLK, C5, CCL21, CCR6, CD2, CD28, CD40, CD58, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, IL2, IL21, IL2RA, IL2RB, IL6ST, IRF5, MUSK, PRDM1, PRKCQ, PTPRC, RAG1, RAPSN, RBPJ, SCN4A, STAT4, TAGAP, TNFAIP3, TNFRSF14, T
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
CD40 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, 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
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
Hyper IgM Syndrome, Panel Massive Sequencing (NGS) 4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
CD40
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Hyper IgM Syndrome Type 3, Sequencing CD40 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
Immunodeficiency type 3, with hyper-IgM
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 7-8 weeks
price: contact lab
Primary antibody deficiency panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Severe Combined Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Severe Combined Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA