Clinical and research tests for C2677889 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Porphyrins, F Mayo Clinic Laboratories Mayo Clinic United States	7	1	A Analyte
Protoporphyrins, Fractionation, WB Mayo Clinic Laboratories Mayo Clinic United States	2	2	A Analyte
Protoporphyrins, Fractionation, RBC Mayo Clinic Laboratories Mayo Clinic United States	2	2	A Analyte
Porphyrins Evaluation, WB Mayo Clinic Laboratories Mayo Clinic United States	2	3	A Analyte
Porphyrin Evaluation, RBC Mayo Clinic Laboratories Mayo Clinic United States	2	3	A Analyte
NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria BloodGenetics Spain	3	4	C Sequence analysis of the entire coding region
ALAS2 Department of Clinical Genetics Odense University Hospital Denmark	1	1	D Deletion/duplication analysis E Sequence analysis of select exons 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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
ALAS2 - 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
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Cholestasis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	210	134	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Hemolytic Anemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	74	39	D Deletion/duplication analysis
Invitae Iron Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	39	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Dyserythropoietic Anemia (CDA) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	12	7	D Deletion/duplication analysis
Invitae Comprehensive Porphyrias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	15	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	249	155	C Sequence analysis of the entire coding region
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	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

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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.

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Results: 1 to 20 of 44

Results: 1 to 20 of 44