Clinical and research tests for 615631 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Dyserythropoietic anemia, congenital, type Ib, 615631, Autosomal recessive; CDAN1B (Congenital dyserythropoietic anemia type I) (C15orf41 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
Dyserythropoietic anemia, congenital, type Ib, 615631, Autosomal recessive; CDAN1B (Congenital dyserythropoietic anemia type I) (C15orf41 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
Precision HealthPGx Panel (25 Genes) RPRD Diagnostics, LLC United States	97	23	D Deletion/duplication analysis T Targeted variant analysis
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	107	96	C Sequence analysis of the entire coding region
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PGx-NP (Neuro-Psychiatry) SPMED CO., LTD Step forward Personalized Medicine South Korea	51	26	T Targeted variant analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	249	155	C Sequence analysis of the entire coding region
Hereditary Hemolytic Anemia Panel PreventionGenetics, part of Exact Sciences United States	44	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
WES iron disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	20	46	E Sequence analysis of select exons
panel congenital dyserythropoietic anemia (CDAN1, C15orf41, GATA1, SEC23B, KIF23, KLF1) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	5	6	C Sequence analysis of the entire coding region
C15ORF41 - congenital dyserythropoietic anemia, type Ib Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Congenital Dyserythropoietic Anemia Type I via the CDIN1/C15orf41 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Dyserythropoietic Anemia Panel PreventionGenetics, part of Exact Sciences United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pharmacogenetics Panel: Psychotropics, with GeneDose Access ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	8	14	E Sequence analysis of select exons
Dyserythropoietic anemia, congenital type Ib (sequence analysis of C15orf41 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Pharmacogenetics Panel: Psychotropics ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	8	14	E Sequence analysis of select exons
Cytochrome P450 Genotyping Panel, with GeneDose Access ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	9	7	T Targeted variant analysis
Inherited Red Blood Cell Disorder Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	17	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cytochrome P450 Genotyping Panel ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	9	7	T Targeted variant analysis
Anemia, congenital dyserythropoietic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region

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