Clinical and research tests for 603909 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoimmune lymphoproliferative syndrome, type II, 603909, Autosomal dominant; ALPS2A (Autoimmune lymphoproliferative syndrome) (CASP10 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
Autoimmune lymphoproliferative syndrome, type II, 603909, Autosomal dominant; ALPS2A (Autoimmune lymphoproliferative syndrome) (CASP10 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
BRCA1 & BRCA2. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain	1	2	E Sequence analysis of select exons
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
Dysregulation/Autoimmune Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	39	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ALPS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	34	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CASP10 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	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
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autoimmune Lymphoproliferative Syndrome/ALPS Panel PreventionGenetics, part of Exact Sciences United States	14	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	22	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	223	154	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Hereditary Lymphoid/Immunodeficiency Predisposition Panel Genetic Services Laboratory University of Chicago United States	27	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autoimmune lymphoproliferative syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
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
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LYMPHOPROLIFERATIVE SYNDROME, AUTOIMMUNE Laboratorio de Genetica Clinica SL Spain	4	5	C Sequence analysis of the entire coding region
Autoimmune lymphoproliferative syndrome type 2A Bioarray Spain	1	1	C Sequence analysis of the entire coding region
CASP10 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis

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