Clinical and research tests for C2677481 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
NFKBIA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Mendelian Susceptibility to Mycobacterial Disease Panel PreventionGenetics, part of Exact Sciences United States	29	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132, Autosomal dominant (Hypohidrotic ectodermal dysplasia) (NFKBIA gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132, Autosomal dominant (Hypohidrotic ectodermal dysplasia) (NFKBIA gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Primary Antibody Deficiency Panel PreventionGenetics, part of Exact Sciences United States	50	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hyper IgM Syndrome Panel PreventionGenetics, part of Exact Sciences United States	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	226	154	D Deletion/duplication analysis
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	186	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	603	446	D Deletion/duplication analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Severe-Chronic EBV (CAEBV) Immunodeficiency Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	70	44	C Sequence analysis of the entire coding region
Ectodermal dysplasia and immune deficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Primary Antibody Deficiency NGS Panel Fulgent Genetics United States	102	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	473	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	330	90	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY Laboratorio de Genetica Clinica SL Spain	2	2	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	C Sequence analysis of the entire coding region

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