Clinical and research tests for C1858361 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	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
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416, Autosomal dominant (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome) (PSTPIP1 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
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416, Autosomal dominant (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome) (PSTPIP1 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
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
Invitae Periodic Fever Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	32	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Periodic Fever Syndromes Panel PreventionGenetics, part of Exact Sciences United States	15	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region
Periodic Fever Syndromes Panel (7 genes) GeneDx United States	10	7	C Sequence analysis of the entire coding region
Periodic Fever Syndrome Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	17	8	C Sequence analysis of the entire coding region
Mediterranean/periodic Fever panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	12	12	C Sequence analysis of the entire coding region
Auto-inflammatory disease panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	34	34	C Sequence analysis of the entire coding region
PSTPIP1 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Periodic Fever NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	15	14	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
Periodic Fever/Autoinflammatory Disorders NGS Panel Fulgent Genetics United States	68	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PYOGENIC, ARTHRITIS, PYODERMA GANGRENOSUM AND ACNE Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
PSTPIP1 Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis

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