Clinical and research tests for C3553291 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GLRB - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
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
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurotransmitter Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	52	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Hyperekplexia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	23	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epilepsy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperekplexia 2 (sequence analysis of GLRB gene) CGC Genetics Unilabs Portugal	1	1	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
Hyperekplexia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	277	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurotransmitter Metabolism Deficiency NGS Panel Fulgent Genetics United States	85	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HYPEREKPLEXIA, HEREDITARY Laboratorio de Genetica Clinica SL Spain	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary hyperekplexia type 2 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing GLRB CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.