Clinical and research tests for C0007194 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Combined Cardiac Sequencing and Del/Dup Panel GeneDx United States	10	138	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiomyopathy Sequencing and Del/Dup Panel GeneDx United States	5	102	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Custom Cardiology Sequencing and Del/Dup Panel GeneDx United States	30	270	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypertrophic Cardiomyopathy (HCM) Sequencing and Del/Dup Panel GeneDx United States	1	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	505	132	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
Coenzyme Q10 Deficiency NGS Panel Fulgent Genetics United States	33	15	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
Comprehensive Cardiomyopathy NGS Panel Fulgent Genetics United States	450	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan and RASopathies NGS Panel Fulgent Genetics United States	235	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Leigh Disease NGS Panel Fulgent Genetics United States	163	75	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
Hypomyelinating Leukodystrophy NGS Panel Fulgent Genetics United States	225	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypertrophic cardiomyopathy - familial variant analysis CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Canada	1	19	D Deletion/duplication analysis T Targeted variant analysis
Hypertrophic cardiomyopathy - full panel CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Canada	1	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel Phosphorus Diagnostics LLC United States	4	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel Phosphorus Diagnostics LLC United States	2	45	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.