Clinical and research tests for 612641 - 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
ANK1 Gene Spherocytosis type 1 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
ANK1 - 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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	77	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
Spherocytosis, type 1, 182900, Autosomal dominant; SPH1 (Hereditary spherocytosis) (ANK1 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
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
Spherocytosis/Elliptocytosis Panel PreventionGenetics, part of Exact Sciences United States	8	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Spherocytosis Type 1 via the ANK1 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
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
Hereditary spherocytosis (WES based NGS panel of 5 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	5	C Sequence analysis of the entire coding region
Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal	1	344	C Sequence analysis of the entire coding region
Anemia Panel CGC Genetics Unilabs Portugal	1	174	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.