RFXAP

OMIMHGNC

Locus: 13q13.3

Protein: Regulatory factor X-associated protein

 

Disorders

Tests

Test Type
Molecular (9)
Multi-Gene Panel (4)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (5)
Prenatal/Carrier
Prenatal (4)
Carrier (4)
Lab Location
Spain(1)
USA(3)
Portugal(3)
Finland(2)
 
Severe Combined Immune Deficiency (HLA Class II-Negative), Sequencing RFXAP Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 11-12 weeks
price: contact lab
RFXAP 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 D (sequence analysis of RFXAP gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4 weeks
price: contact lab
RFXAP Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-5 Weeks
price: contact lab
RFXAP
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: 3-4 weeks
price: contact lab
Severe Combined Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland