Clinical and research tests for C5399825 - Genetic Testing Registry (GTR) - NCBI

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Results: 41 to 60 of 68

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	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
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
Humoral dysfunction panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	25	25	C Sequence analysis of the entire coding region
SH2D1A Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
SH2D1A Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Immunodeficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	69	60	C Sequence analysis of the entire coding region
Lymphoproliferative syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Primary Antibody Deficiency NGS Panel Fulgent Genetics United States	102	37	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
Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	330	90	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Agammaglobulinemia NGS Panel Fulgent Genetics United States	11	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lymphoproliferative Disease, X-Linked (Duncan Disease): gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	2	C Sequence analysis of the entire coding region
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED (DUNCAN DISEASE) Laboratorio de Genetica Clinica SL Spain	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hereditary Cancer Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	128	130	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Immune dysregulation Panel CeGaT GmbH Germany	13	22	C Sequence analysis of the entire coding region
X-linked lymphoproliferative disease type 1 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
SH2D1A Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	33	30	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
XIAP Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 41 to 60 of 68

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.