Clinical and research tests for C1868679 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 67

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hypopigmentation Panel PreventionGenetics, part of Exact Sciences United States	39	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Invitae United States	37	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States	223	154	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Bone Marrow Failure Syndromes Panel Invitae United States	138	85	D Deletion/duplication analysis
Oculocutaneous Albinism (OCA) Panel PreventionGenetics, part of Exact Sciences United States	18	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Severe Congenital Neutropenia Panel PreventionGenetics, part of Exact Sciences United States	26	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel PreventionGenetics, part of Exact Sciences United States	28	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Griscelli Syndrome-Type 2 (GS2) via the RAB27A Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Hemophagocytic lymphohistiocytosis panel. NGS panel of 15 genes. Genologica Medica Spain	19	15	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
Neutropenia Asper Biogene Asper Biogene LLC Estonia	33	26	C Sequence analysis of the entire coding region
Griscelli Syndrome Type 2 Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region
RAB27A - Genetic Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemophagocytic Lymphohistiocytosis (HLH) Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	16	14	C Sequence analysis of the entire coding region
Bone Marrow Failure Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	95	62	C Sequence analysis of the entire coding region
Neutropenia Panel, Chronic CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	23	15	C Sequence analysis of the entire coding region
Severe-Chronic EBV (CAEBV) Immunodeficiency Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	70	44	C Sequence analysis of the entire coding region
RAB27A Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 67

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.