Clinical and research tests for C4085590 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PGmax™ - Comprehensive Ocular Disorders Panel PreventionGenetics, part of Exact Sciences United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cone Rod Dystrophies Amplexa Genetics Amplexa Genetics A/S Denmark	1	40	S Mutation scanning of the entire coding region
Comprehensive Inherited Retinal Dystrophies Panel PreventionGenetics, part of Exact Sciences United States	16	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leber congenital amaurosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	25	19	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
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	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
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel Fulgent Genetics United States	188	15	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
Congenital Sideroblastic Anemia NGS Panel Fulgent Genetics United States	24	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CONE-ROD DYSTROPHY Laboratorio de Genetica Clinica SL Spain	1	37	C Sequence analysis of the entire coding region
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia	367	291	C Sequence analysis of the entire coding region
GUCA1A single gene sequencing Molecular Vision Laboratory United States	1	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CRX single gene sequencing Molecular Vision Laboratory United States	1	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CNNM4 single gene sequencing Molecular Vision Laboratory United States	1	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CNGA3 single gene sequencing Molecular Vision Laboratory United States	2	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CERKL single gene sequencing Molecular Vision Laboratory United States	2	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CDHR1 single gene sequencing Molecular Vision Laboratory United States	1	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CACNA2D4 single gene sequencing Molecular Vision Laboratory United States	1	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis

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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.