Clinical and research tests for C0271933 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Mayo Clinic Laboratories Mayo Clinic United States	41	40	C Sequence analysis of the entire coding region
NGS Panel for Congenital Dyserythropoietic Anemia BloodGenetics Spain	9	12	C Sequence analysis of the entire coding region
Hyperferritinemia Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	15	15	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	266	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyserythropoietic anemia, congenital, type Ia, 224120, Autosomal recessive; CDAN1A (Congenital dyserythropoietic anemia type I) (CDAN1 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
Dyserythropoietic anemia, congenital, type Ia, 224120, Autosomal recessive; CDAN1A (Congenital dyserythropoietic anemia type I) (CDAN1 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
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
CDAN1 - congenital dyserythropoietic anemia, type I Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
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
Congenital Dyserythropoietic Anemia Type I via the CDAN1 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
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
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 1 Laboratorio de Genetica Clinica SL Spain	2	2	C Sequence analysis of the entire coding region
Erythrocytes, Anemia Panel CeGaT GmbH Germany	14	33	C Sequence analysis of the entire coding region
Hemolytic Anemia Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	33	34	E Sequence analysis of select exons
C15orf41 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
Congenital dyserythropoietic anemia type 1 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Non-Immune Hydrops NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	86	87	C Sequence analysis of the entire coding region
CDAN1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis

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