Clinical and research tests for C0398689 - Genetic Testing Registry (GTR) - NCBI

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Results: 41 to 59 of 59

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hyper IgM Syndrome ,Panel Massive Sequencing (NGS) 4 Genes Reference Laboratory Genetics Spain	4	4	C Sequence analysis of the entire coding region
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Reference Laboratory Genetics Spain	45	45	C Sequence analysis of the entire coding region
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Reference Laboratory Genetics Spain	43	41	C Sequence analysis of the entire coding region
HYPER-IgM SYNDROME TYPE 1 (X-LINKED) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
X-Linked Hyper IgM Syndrome, Sequencing CD40LG Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Severe Congenital Neutropenia Gene Set Clinical Genomics Laboratory Washington University in St. Louis United States	28	48	C Sequence analysis of the entire coding region
Antibody deficiencies Panel CeGaT GmbH Germany	13	28	C Sequence analysis of the entire coding region
Immunodeficiency, X-linked, with hyper-IgM Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Immunodeficiency with hyper IgM type 1 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region
CD40LG 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
CD40LG Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Neutropenia panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	39	40	C Sequence analysis of the entire coding region T Targeted variant analysis
Clinical Exome Fulgent Genetics United States	5127	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe combined immunodeficiency (SCID) panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands	30	27	C Sequence analysis of the entire coding region
B cell pathology panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands	16	14	C Sequence analysis of the entire coding region
CD40LG Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands	1	1	C Sequence analysis of the entire coding region
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	112	116	C Sequence analysis of the entire coding region
CD40LG Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis

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Results: 41 to 59 of 59

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.