Clinical and research tests for 242860 - Genetic Testing Registry (GTR)

Results: 1 to 20 of 20

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860, Autosomal recessive; ICF1 (ICF syndrome) (DNMT3B 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
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860, Autosomal recessive; ICF1 (ICF syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860, Autosomal recessive; ICF1 (ICF syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860, Autosomal recessive; ICF1 (ICF syndrome) (DNMT3B 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
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis of the entire coding region
DNMT3B - 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
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 Invitae United States	755	562	D Deletion/duplication analysis
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Invitae United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Agammaglobulinemia Panel Invitae United States	39	36	D Deletion/duplication analysis
Immunodeficiency-centromeric instability-facial anomalies: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	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
Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	330	90	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ICF SYNDROME Laboratorio de Genetica Clinica SL Spain	4	4	C Sequence analysis of the entire coding region
MICAL1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromes with immunodeficiency Panel CeGaT GmbH Germany	33	38	C Sequence analysis of the entire coding region
DNMT3B Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 1 to 20 of 20

Results: 1 to 20 of 20