RFX5

OMIMHGNC

Locus: 1q21.3

Protein: DNA-binding protein RFX5

 

Disorders

Tests

Test Type
Molecular (16)
Multi-Gene Panel (10)
Multi-Method Panel (8)
Test Method
Del/Dup (CNV) (9)
Sequencing, Capillary (Sanger) (5)
Sequencing, Next Gen (11)
Prenatal/Carrier
Prenatal (7)
Carrier (9)
Lab Location
USA(8)
Portugal(3)
Spain(2)
Germany(1)
Finland(2)
 
TAT: 4-6 weeks
price: contact lab
RFX5 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Hereditary MHC class II deficiency, complementation group C/E (sequence analysis of RFX5 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4 weeks
price: contact lab
RFX5 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Severe combined immunodeficiency, HLA class II-negative: RFX5 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Immune Deficiency by Defective Expression of HLA Class II , Sequencing RFX5 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
RFX5
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Immunodeficiencies affecting cellular and humoral immunity – SCID and CID (NGS panel of 48 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Immunodeficiencies affecting cellular and humoral immunity – CID (NGS panel of 33 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Combined Immunodeficiency (CID) Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Monogenic Autoimmunity Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
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