Clinical and research tests for 9780 - 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
PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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 University, School of Medicine United States	107	96	C Sequence analysis of the entire coding region
NGS Panel for Hereditary Hemolytic Anemias due to Membranopathies (spherocytosis, elliptocytosis, pyropoycylocytosis, ovalocytosis, stomatocytosis) and Gilbert syndrome as a modifier factor BloodGenetics Spain	7	17	C Sequence analysis of the entire coding region
PIEZO1 - 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
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 Labcorp Genetics (formerly Invitae) LabCorp United States	57	28	D Deletion/duplication analysis
Invitae Hereditary Hemolytic Anemia Panel Labcorp Genetics (formerly Invitae) LabCorp 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
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
Lymphedema, hereditary, III, 616843, Autosomal recessive; LMPH3 (Dehydrated hereditary stomatocytosis) (PIEZO1 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
Lymphedema, hereditary, III, 616843, Autosomal recessive; LMPH3 (Dehydrated hereditary stomatocytosis) (PIEZO1 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
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380, Autosomal dominant; DHS1 (Dehydrated hereditary stomatocytosis) (PIEZO1 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
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380, Autosomal dominant; DHS1 (Dehydrated hereditary stomatocytosis) (PIEZO1 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Hereditary Xerocytosis via the PIEZO1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Xerocytosis Panel PreventionGenetics, part of Exact Sciences United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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.