Clinical and research tests for C2675459 - 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	39	40	C Sequence analysis of the entire coding region
Red Blood Cell Enzyme Panel, Next-Generation Sequencing Mayo Clinic Laboratories Mayo Clinic United States	19	17	C Sequence analysis of the entire coding region
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies BloodGenetics Spain	33	36	C Sequence analysis of the entire coding region
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	107	96	C Sequence analysis of the entire coding region
NGS Panel for Hereditary Hemolytic Anemias due to red blood cell enzymopathies or Glycogen storage disease BloodGenetics Spain	12	17	C Sequence analysis of the entire coding region
AK1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis 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
Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States	57	28	D Deletion/duplication analysis
Invitae Hereditary Hemolytic Anemia Panel Invitae United States	74	39	D Deletion/duplication analysis
Hereditary Hemolytic Anemia Cascade ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	24	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemolytic anemia due to adenylate kinase deficiency, 612631, Autosomal recessive (Hemolytic anemia due to adenylate kinase deficiency) (AK1 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
Hemolytic anemia due to adenylate kinase deficiency, 612631, Autosomal recessive (Hemolytic anemia due to adenylate kinase deficiency) (AK1 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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Hemolytic anemia due to adenylate kinase deficiency (sequence analysis of AK1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Severe Congenital Neutropenia Gene Set Clinical Genomics Laboratory Washington University in St. Louis United States	28	48	C Sequence analysis of the entire coding region
Combined immunodeficiencies Panel CeGaT GmbH Germany	23	60	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
Hereditary Hemolytic Anemia Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	21	28	C Sequence analysis of the entire coding region
AK1 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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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.