Clinical and research tests for C3280282 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GRIN1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication 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
Mental retardation, autosomal dominant 8, 614254; MRD8 (Autosomal dominant non-syndromic intellectual disability) (GRIN1 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
Mental retardation, autosomal dominant 8, 614254; MRD8 (Autosomal dominant non-syndromic intellectual disability) (GRIN1 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
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GRIN1 Amplexa Genetics Amplexa Genetics A/S Denmark	1	1	X Mutation scanning of select exons C Sequence analysis of the entire coding region
Early Infantile Epileptic Encephalopathy Panel PreventionGenetics, part of Exact Sciences United States	144	124	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Mental retardation, autosomal dominant 8 (sequence analysis of GRIN1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Epileptic encephalopathy panel. 128-gene NGS panel. Genologica Medica Spain	197	128	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
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
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Infantile Spasms NGS Panel Fulgent Genetics United States	53	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Reference Laboratory Genetics Spain	31	31	C Sequence analysis of the entire coding region
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Reference Laboratory Genetics Spain	94	91	C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Athena Diagnostics United States	66	67	D Deletion/duplication analysis 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.