Severe Combined Immunodeficiency Panel
method(s): ◦ Sequencing, Next Gen
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
ORAI1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger)
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 |
Immunodeficiency 9 Test, due to ORAI1 Deficiency
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany |
Severe Combined Immunodeficiency Panel
method(s): ◦ Sequencing, Next Gen
All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA |
ORAI1 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV)
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Muscle Weakness (Myopathy, Muscular Dystrophy)
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Congenital and Distal Myopathies Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
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 |
Single gene testing ORAI1
method(s): ◦ Sequencing, Capillary (Sanger)
CeGaT GmbH - Tübingen, Germany |
Neuromuscular Sequencing Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Severe Combined Immune Deficiency (SCID), Panel Massive Sequencing (NGS) 18 Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 407 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Fever Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 36 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
ORAI1
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 – other syndromes (NGS panel of 16 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Immunodeficiency type 9
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Centogene AG, Rare Disease Company - Rostock, Germany |
Myopathy, tubular aggregate, type 2
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 Monogenic Autoimmunity Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Invitae - San Francisco, CA, USA |
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 |
Neuromuscular Comprehensive Panel
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Myopathy with Tubular Aggregates Sequencing Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Severe Combined Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Severe Combined Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
