Clinical and research tests for 5340 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	299	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genetic Renal Panel v8 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	21	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TMA-Complete Genetic Panel 3.0 Machaon Diagnostics United States	6	24	E Sequence analysis of select exons
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PLG - 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
Atypical Hemolytic Uremic Syndrome (aHUS) Panel Centogene AG - the Rare Disease Company Germany	23	25	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 Hereditary Angioedema Panel Labcorp Genetics (formerly Invitae) LabCorp United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	25	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Plasminogen (PLG) Gene Sequencing (2 Day STAT TAT) Machaon Diagnostics United States	1	1	C Sequence analysis of the entire coding region
Plasminogen deficiency, type I, 217090, Autosomal recessive (Hypoplasminogenemia) (PLG 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
Dysplasminogenemia, 217090, Autosomal recessive (Hypoplasminogenemia) (PLG 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
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
Thrombosis Panel Versiti Diagnostic Laboratories Versiti, Inc United States	1	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region
PLG - complement-mediated eye disease Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Genomic Unity® Renal Disorders Analysis Variantyx, Inc. United States	1	425	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Nephrology Panel CGC Genetics Unilabs Portugal	1	334	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
Bleeding Disorders Panel CGC Genetics Unilabs Portugal	1	121	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.