Clinical and research tests for C0472813 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
BTK - 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
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 Invitae United States	755	562	D Deletion/duplication analysis
Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Diarrhea Panel Invitae United States	121	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Agammaglobulinemia and isolated hormone deficiency, 307200, X-linked recessive (Non-acquired isolated growth hormone deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Agammaglobulinemia, X-linked 1, 300755, X-linked recessive; XLA (X-linked agammaglobulinemia) (BTK 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
Agammaglobulinemia and isolated hormone deficiency, 307200, X-linked recessive (Non-acquired isolated growth hormone deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Agammaglobulinemia and isolated hormone deficiency, 307200, X-linked recessive (Non-acquired isolated growth hormone deficiency) (BTK 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
Agammaglobulinemia and isolated hormone deficiency, 307200, X-linked recessive (Non-acquired isolated growth hormone deficiency) (BTK 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
Agammaglobulinemia, X-linked 1, 300755, X-linked recessive; XLA (X-linked agammaglobulinemia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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 Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Antibody Deficiency Panel PreventionGenetics, part of Exact Sciences United States	50	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Short stature with endocrinopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	16	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Short stature with endocrinopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	16	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short stature with endocrinopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	16	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Agammaglobulinemia Panel PreventionGenetics, part of Exact Sciences United States	12	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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