NHEJ1

Synonym(s): Cernunnos, XLF, FLJ12610

Locus: 2q35

Protein: Non-homologous end-joining factor 1

Disorders

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation

Tests


TAT: 7-8 weeks price: contact lab Severe Combined Immunodeficiency Panel method(s): ◦ Sequencing, Next Gen Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 8-9 weeks price: contact lab Microcephaly Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks price: contact lab epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 6-8 weeks price: contact lab B-negative SCID Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA
TAT: 8-10 weeks price: contact lab Comprehensive SCID Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA
TAT: contact lab price: contact lab Primary Immunodeficiency Gene Panel method(s): ◦ Sequencing, Next Gen All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA
TAT: 4-6 weeks price: contact lab NHEJ1 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 6-7 weeks price: contact lab Chromosome Breakage Syndrome Panel method(s): ◦ Sequencing, Next Gen Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks price: contact lab Chromosome Breakage Syndrome Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks price: contact lab Severe Combined Immunodeficiency Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: contact lab price: contact lab 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
TAT: contact lab price: contact lab Brain Development Disorders Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: contact lab price: contact lab Epilepsy Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: contact lab price: contact lab Microcephaly and Dwarfism Syndromes method(s): ◦ Sequencing, Capillary (Sanger) Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: contact lab price: contact lab Chromosome Breakage Syndrome Panel method(s): ◦ Sequencing, Next Gen All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA
TAT: contact lab price: contact lab Severe Combined Immunodeficiency Panel method(s): ◦ Sequencing, Next Gen All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA
TAT: 4 weeks price: contact lab NHEJ1 Deletion/duplication analysis method(s): ◦ Del/Dup (CNV) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 7-10 days price: contact lab NewbornDx method(s): ◦ Sequencing, Next Gen Parabase Genomics - Boston, MA, USA
TAT: contact lab price: contact lab Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (sequence analysis of NHEJ1 gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal
TAT: 2-4 weeks price: contact lab Single gene testing NHEJ1 method(s): ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Severe Combined Immunodeficiency (SCID) B-: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab 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
TAT: contact lab price: contact lab Severe Combined Immunodeficiency (SCID) B+/B-: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-9 weeks price: contact lab Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: contact lab price: $1,502.00 Microcephaly method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: contact lab price: contact lab Severe Combined Immune Deficiency (SCID), Panel Massive Sequencing (NGS) 18 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 Weeks price: contact lab Intellectual Disability NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks price: contact lab Microcephaly NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks price: contact lab NHEJ1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks price: contact lab Comprehensive Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks price: contact lab Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks price: contact lab B-negative SCID panel method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: contact lab price: contact lab Brain malformations method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 2-3 weeks price: contact lab CentoICU Platinum method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks price: contact lab 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 Comprehensive Severe Combined Immunodeficiency (SCID) 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 T-B-NK+ Severe Combined Immunodeficiency (SCID) Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA
TAT: 1-3 weeks price: $1,500.00 Invitae Radiation-Sensitive Severe Combined Immunodeficiency (SCID) Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA
TAT: 4-5 weeks price: contact lab Microcephaly panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks price: contact lab Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Microcephaly and Pontocerebellar Hypoplasia 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, 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 Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Microcephaly and Pontocerebellar Hypoplasia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
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

GeneTests

NHEJ1

Disorders

Tests

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Test Type

Test Method

Prenatal/Carrier

Lab Location