Clinical and research tests for C3715049 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuronal Ceroid-Lipofuscinoses Panel Genetic Services Laboratory University of Chicago United States	11	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362, Autosomal recessive; CLN13 (CLN13 disease) (CTSF gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362, Autosomal recessive; CLN13 (CLN13 disease) (CTSF gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Neuronal Ceroid Lipofuscinosis 13 via the CTSF Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neuronal Ceroid Lipofuscinoses (Batten Disease) Panel PreventionGenetics, part of Exact Sciences United States	15	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	234	240	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Neuronal ceroid lipofuscinosis and progressive myoclonic epilepsy panel. 31-gene NGS panel. Genologica Medica Spain	46	31	C Sequence analysis of the entire coding region
Nöronal Ceroid Lipofuscinosis (NCL) Genetic Panel Duzen Laboratories Duzen BBAGUAS Turkey	16	15	C Sequence analysis of the entire coding region
Neuronal Ceroid Lipofuscinoses Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Czech Republic	13	13	C Sequence analysis of the entire coding region
Ceroid lipofuscinoses: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	13	11	C Sequence analysis of the entire coding region
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Reference Laboratory Genetics Spain	108	82	C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics Inc United States	233	234	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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