Clinical and research tests for C1864669 - Genetic Testing Registry (GTR)

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Results: 41 to 60 of 67

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	233	234	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis Athena Diagnostics United States	13	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disease Asper Biogene Asper Biogene LLC Estonia	70	50	C Sequence analysis of the entire coding region
NEURONAL CEROID LIPOFUSCINOSIS Laboratorio de Genetica Clinica SL Spain	9	9	X Mutation scanning of select exons 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
Epilepsy Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	143	135	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CTSD/CLN10 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
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ceroid lipofuscinosis, neuronal, 10 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Lysosomal Storage Disease NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	74	75	C Sequence analysis of the entire coding region
Epilepsy/Seizure NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	158	165	C Sequence analysis of the entire coding region
Single gene testing CTSD CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Neuronal ceroid lipofuscinosis panel Molecular Vision Laboratory United States	12	9	C Sequence analysis of the entire coding region
Retinal Dystrophy Panel Molecular Vision Laboratory United States	372	283	C Sequence analysis of the entire coding region
Neuronal Ceroidlipofuscinosis (NCL) Panel CeGaT GmbH Germany	24	13	C Sequence analysis of the entire coding region
CTSD 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	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 41 to 60 of 67

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.

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Results: 41 to 60 of 67

Results: 41 to 60 of 67