Clinical and research tests for 601065 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Newborns Genetic Test Panel NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
AARS1 Gene CMT2N NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
AARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Distal Weakness Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peripheral Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Motor and Sensory Neuropathy Panel Mayo Clinic Laboratories Mayo Clinic United States	2	87	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot Marie Tooth Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	46	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AARS1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Epilepsy exome Genetic Services Laboratory University of Chicago United States	47	125	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease, axonal, type 2N, 613287, Autosomal dominant; CMT2N (Autosomal dominant Charcot-Marie-Tooth disease type 2N) (AARS 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
Epileptic encephalopathy, early infantile, 29, 616339, Autosomal recessive; EIEE29 (Undetermined early-onset epileptic encephalopathy) (AARS 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
Epileptic encephalopathy, early infantile, 29, 616339, Autosomal recessive; EIEE29 (Undetermined early-onset epileptic encephalopathy) (AARS 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

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