Clinical and research tests for 615272 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 47

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Dermatological. Full panel Genologica Medica Spain	122	68	C Sequence analysis of the entire coding region
Xeroderma pigmentosum panel Genologica Medica Spain	15	9	C Sequence analysis of the entire coding region
Progeria panel. 17-gene NGS panel. Genologica Medica Spain	48	17	C Sequence analysis of the entire coding region
Fanconi anemia panel Genologica Medica Spain	35	22	C Sequence analysis of the entire coding region
Aplastic Anemia Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	64	39	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
Comprehensive Glomerular Proteinuria NGS Panel Fulgent Genetics United States	182	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeria Syndrome NGS Panel Fulgent Genetics United States	42	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure NGS Panel Fulgent Genetics United States	180	60	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
Fanconi Anemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	21	21	C Sequence analysis of the entire coding region
Full Comprehensive Cancer Panel Fulgent Genetics United States	329	127	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
Hereditary Breast/Gyn Cancer Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	28	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing ERCC4 CeGaT GmbH Germany	3	1	C Sequence analysis of the entire coding region
Ataxia and differential diagnoses Panel CeGaT GmbH Germany	173	204	C Sequence analysis of the entire coding region
Fanconi anemia Panel CeGaT GmbH Germany	17	16	C Sequence analysis of the entire coding region
ERCC4 (FANCQ) 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
ERCC4 (FANCQ) 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
ERCC4 Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 47

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.