Clinical and research tests for C3280976 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
THBD Gene, Full Gene Next-Generation Sequencing Mayo Clinic Laboratories Mayo Clinic United States	2	1	C Sequence analysis of the entire coding region
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
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
Thrombophilia due to thrombomodulin defect, 614486; THPH12 (Thrombomodulin-related bleeding disorder) (THBD 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
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	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
Bleeding Disorders Panel PreventionGenetics, part of Exact Sciences United States	78	79	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Renal Disorders Panel Dhiti Omics Technologies Private Ltd India	72	57	C Sequence analysis of the entire coding region
Plugin system clutter panel. NGS panel of 75 genes. Genologica Medica Spain	76	75	C Sequence analysis of the entire coding region
Thrombocytopenia panel. 34-gene NGS panel. Genologica Medica Spain	53	34	C Sequence analysis of the entire coding region
Hemolytic uremic syndrome panel. 9-gene NGS panel. Genologica Medica Spain	19	9	C Sequence analysis of the entire coding region
Bleeding disorder / coagulopathy panel. NGS panel of 62 genes. Genologica Medica Spain	96	62	C Sequence analysis of the entire coding region
Female Infertility Asper Biogene Asper Biogene LLC Estonia	85	64	C Sequence analysis of the entire coding region
Hemolytic Uremic Syndrome Asper Biogene Asper Biogene LLC Estonia	14	12	C Sequence analysis of the entire coding region
Atypical Hemolytic Uremic Syndrome panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	9	10	C Sequence analysis of the entire coding region
Thrombophilia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	18	13	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.