Clinical and research tests for 605988 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
F9 Gene Hemophilia B NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	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
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis of the entire coding region
DCLRE1C Gene Omenn syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
DCLRE1C Gene Severe combined immunodeficiency, Athabascan type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	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
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
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
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Severe combined immunodeficiency, Athabascan type, 602450, Autosomal recessive (Severe combined immunodeficiency due to DCLRE1C deficiency) (DCLRE1C 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, Athabascan type, 602450, Autosomal recessive (Severe combined immunodeficiency due to DCLRE1C deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Severe combined immunodeficiency, Athabascan type, 602450, Autosomal recessive (Severe combined immunodeficiency due to DCLRE1C deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Severe combined immunodeficiency, Athabascan type, 602450, Autosomal recessive (Severe combined immunodeficiency due to DCLRE1C deficiency) (DCLRE1C 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
Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (DCLRE1C 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
Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (DCLRE1C 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
Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis

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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.