Severe Combined Immunodeficiency Panel method(s): ◦ Sequencing, Next Gen Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
FOXN1 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
FOXN1 Deletion/duplication analysis method(s): ◦ Del/Dup (CNV) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Severe Combined Immunodeficiency Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Inherited Disease Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Skin Diseases Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Severe Combined Immunodeficiency Panel method(s): ◦ Sequencing, Next Gen All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA |
Severe Recessive Childhood Diseases method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy (sequence analysis of FOXN1 gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Severe Combined Immunodeficiency (SCID) B+/B-: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Severe Combined Immunodeficiency (SCID) B+: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Severe Combined Immune Deficiency (SCID), Panel Massive Sequencing (NGS) 18 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
FOXN1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
CID with associated or syndromic features – All subtypes (NGS panel of 45 genes and deletion of 22q11.2 by MLPA) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
CID with associated or syndromic features - Thymic defects (NGS panel for 4 genes and deletion of 22q11.2 by MLPA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
B-positive SCID panel method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Comprehensive SCID panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
TAT: 1-3 weeks price: $1,500.00
Invitae Syndromic Combined Immunodeficiency (CID) Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |