Clinical and research tests for C1845070 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SRPX2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (Rolandic epilepsy-speech dyspraxia syndrome) (SRPX2 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
Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (Rolandic epilepsy-speech dyspraxia syndrome) (SRPX2 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
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Polymicrogyria panel. 17-gene NGS panel. Genologica Medica Spain	22	17	C Sequence analysis of the entire coding region
X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain	143	99	C Sequence analysis of the entire coding region
Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain	110	57	C Sequence analysis of the entire coding region
Rolandic epilepsy, impaired intellectual development, and speech dyspraxia: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Brain Malformations Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	111	56	C Sequence analysis of the entire coding region
Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	136	90	C Sequence analysis of the entire coding region
Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	210	139	C Sequence analysis of the entire coding region
Epilepsy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	132	83	C Sequence analysis of the entire coding region
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Reference Laboratory Genetics Spain	41	38	C Sequence analysis of the entire coding region
Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes Reference Laboratory Genetics Spain	11	10	C Sequence analysis of the entire coding region
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Reference Laboratory Genetics Spain	40	34	C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Athena Diagnostics Inc United States	57	56	D Deletion/duplication analysis 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
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Athena Diagnostics Inc United States	43	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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