Clinical and research tests for 611290 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary angioedema type 1, 2 and 3 , Factor XII deficiency (deletion/duplication analysis of SERPING1 and F12 genes) CGC Genetics Unilabs Portugal	1	2	D Deletion/duplication analysis
Microcephaly Panel Genetic Services Laboratory University of Chicago United States	72	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SCID Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	65	50	C Sequence analysis of the entire coding region
NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
NGS Panel for Dyskeratosis congenita BloodGenetics Spain	11	16	C Sequence analysis of the entire coding region
NGS Panel for Bone Marrow failure BloodGenetics Spain	56	69	C Sequence analysis of the entire coding region
NHEJ1 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (Cernunnos-XLF deficiency) (NHEJ1 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
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (Cernunnos-XLF deficiency) (NHEJ1 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
Severe Combined Immunodeficiency (SCID) Panel PreventionGenetics, part of Exact Sciences United States	21	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	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.