Clinical and research tests for C0272167 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 39 of 39

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Severe Combined Immunodeficiency Asper Biogene Asper Biogene LLC Estonia	61	43	C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency (SCID) Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	38	24	C Sequence analysis of the entire coding region
B-Negative Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	73	13	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
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Reference Laboratory Genetics Spain	16	18	C Sequence analysis of the entire coding region
Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2 Reference Laboratory Genetics Spain	7	4	C Sequence analysis of the entire coding region
Reticular Dysgenesis , Sequencing AK2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
AK2 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
AK2 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
Reticular dysgenesis Bioarray Spain	1	1	C Sequence analysis of the entire coding region
AK2 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	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	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
Severe Combined Immunodeficiency and T Cell Disorders 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	35	41	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

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Results: 21 to 39 of 39

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.