Clinical and research tests for C0022797 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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, Kufs type, adult onset, 204300, Autosomal recessive (CLN4A disease) (CLN6 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
Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300, Autosomal recessive (CLN4A disease) (CLN6 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, 4A, AUTOSOMAL RECESSIVE; CLN4A (CLN4A disease) (CLN6 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, 6, 601780, Autosomal recessive; CLN6 (Late infantile neuronal ceroid lipofuscinosis) (CLN6 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
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Neuronal Ceroid Lipofuscinosis 6 via the CLN6 Gene PreventionGenetics, part of Exact Sciences United States	2	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
Epilepsy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	132	83	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
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progressive Myoclonic Epilepsy NGS Panel Fulgent Genetics United States	36	17	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
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis 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
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Reference Laboratory Genetics Spain	109	78	C Sequence analysis of the entire coding region
Neuronal Ceroid Lipofuscinoses , Panel Massive Sequencing (NGS) 11 Genes Reference Laboratory Genetics Spain	13	11	C Sequence analysis of the entire coding region

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