Clinical and research tests for C0520739 - 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 Membrane Panel, Next-Generation Sequencing Mayo Clinic Laboratories Mayo Clinic United States	19	14	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
SPTA1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	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
Pyropoikilocytosis, 266140, Autosomal recessive; HPP (Hereditary pyropoikilocytosis) (SPTA1 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
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
Spherocytosis Panel, Hereditary CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	19	6	C Sequence analysis of the entire coding region
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
Erythrocytosis NGS Panel Fulgent Genetics United States	61	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPTA1 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
SPTA1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	3	1	D Deletion/duplication analysis
SPTA1 Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Spherocytosis NGS Panel Fulgent Genetics United States	10	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Erythrocyte membrane disorder panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands	16	7	D Deletion/duplication analysis 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.