Clinical and research tests for 2876 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States	1	335	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
GPX1 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	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
Hemolytic anemia due to glutathione peroxidase deficiency, 614164, Autosomal recessive (GPX1 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
Hemolytic anemia due to glutathione peroxidase deficiency, 614164, Autosomal recessive (GPX1 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
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 metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Hemolytic anemia (WES based NGS panel of 33 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	33	C Sequence analysis of the entire coding region
RBC Enzymopathies (NGS panel for 14 genes) CGC Genetics Unilabs Portugal	1	14	C Sequence analysis of the entire coding region
Glutathione peroxidase deficiency (sequence analysis of GPX1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
HEREDITARY ANEMIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	144	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region

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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.