RFXANK

OMIMHGNC

Synonym(s): BLS, RFX-B, ANKRA1, F14150_1, MGC138628

Locus: 19p13.11

Protein: DNA-binding protein RFXANK

 

Disorders

Tests

Test Type
Molecular (10)
Multi-Gene Panel (4)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (5)
Sequencing, Capillary (Sanger) (5)
Sequencing, Next Gen (5)
Prenatal/Carrier
Prenatal (5)
Carrier (5)
Lab Location
Spain(1)
USA(3)
Portugal(3)
Finland(2)
Germany(1)
 
Severe Combined Immune Deficiency (HLA Class II-Negative), Sequencing RFXANK Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 11-12 weeks
price: contact lab
RFXANK Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Immunodeficiency by defective expression of HLA class 2 (sequence analysis of RFXANK gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4 weeks
price: contact lab
RFXANK 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
RFXANK
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
TAT: ~2 weeks
price: contact lab
Bare lymphocyte syndrome, type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany