Clinical and research tests for 6334 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SCN8A Gene Early infantile epileptic encephalopathy type 13 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Ataxia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	199	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Epilepsy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	318	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
Rett/Atypical Rett Syndrome Panel Genetic Services Laboratory University of Chicago United States	1	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SCN8A - 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
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Epilepsy Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	1	166	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability exome Genetic Services Laboratory University of Chicago United States	6	216	D Deletion/duplication analysis 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
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cognitive impairment with or without cerebellar ataxia, 614306, Autosomal dominant; CIAT (SCN8A 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
Cognitive impairment with or without cerebellar ataxia, 614306, Autosomal dominant; CIAT (SCN8A 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, 13, 614558, Autosomal dominant; EIEE13 (Undetermined early-onset epileptic encephalopathy) (SCN8A 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, 13, 614558, Autosomal dominant; EIEE13 (Undetermined early-onset epileptic encephalopathy) (SCN8A 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
Seizures, benign familial infantile, 5, 617080, Autosomal dominant; BFIS5 (Benign familial infantile epilepsy) (SCN8A 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
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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