Clinical and research tests for 611291 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 38 of 38

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Severe Combined Immunodeficiency (SCID) Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	38	24	C Sequence analysis of the entire coding region
Fanconi Anemia NGS Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	11	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	19	18	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
SEVERE COMBINED IMMUNODEFICIENCY(SCID)- SENSITIVITY TO IONIZING RADIATION (T- B- NK+) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing NHEJ1 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
NHEJ1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	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
NHEJ1 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
Microcephaly NGS Panel Fulgent Genetics United States	322	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis 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
Chromosome Breakage 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	28	28	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 38 of 38

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.