Clinical and research tests for C2752036 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
THBD - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	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
Blood Coagulation Panel Centogene AG - the Rare Disease Company Germany	110	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Complement Deficiency Disorders Panel Invitae United States	35	22	D Deletion/duplication analysis
Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel Invitae United States	25	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
aHUS Genetic Panel (20 genes) (2 Day STAT TAT) Machaon Diagnostics United States	7	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Hereditary Thrombophilia Panel Invitae United States	24	11	D Deletion/duplication analysis
Genetic Renal Panel Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	21	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bleeding Disorders Panel PreventionGenetics United States	78	79	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States	58	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thrombosis Disorder NGS Panel Fulgent Genetics United States	46	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States	146	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Focus Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States	40	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ATYPICAL HEMOLYTIC UREMIC SYNDROME Laboratorio de Genetica Clinica SL Spain	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
THBD Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis

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Results: 1 to 20 of 23

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.