Clinical and research tests for 616050 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammation with infantile enterocolitis, 616050, Autosomal dominant; AIFEC (Periodic fever-infantile enterocolitis-autoinflammatory syndrome) (NLRC4 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
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
HLH Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	35	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NLRC4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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
Invitae Congenital Diarrhea Panel Labcorp Genetics (formerly Invitae) LabCorp United States	121	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	37	24	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	226	154	D Deletion/duplication analysis
Invitae Monogenic Inflammatory Bowel Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	108	67	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	603	446	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
Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel PreventionGenetics, part of Exact Sciences United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autoinflammation: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	6	6	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
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	473	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
NLRC4 Single Gene Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing NLRC4 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.