Clinical and research tests for C1846038 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RAB39B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Parkinson Disease and Parkinsonism Panel Invitae United States	44	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Overgrowth Syndromes Panel Invitae United States	96	53	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
Mental retardation, X-linked 72, 300271, X-linked recessive; MRX72 (X-linked non-syndromic intellectual disability) (RAB39B 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
Mental retardation, X-linked 72, 300271, X-linked recessive; MRX72 (X-linked non-syndromic intellectual disability) (RAB39B 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
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Mental retardation, X-linked type 72 (sequence analysis of RAB39B gene) CGC Genetics Unilabs Portugal	1	1	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
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain	88	43	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 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
Mental retardation, nonsyndromic, X-linked: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	32	31	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
Macrocephaly/Overgrowth Syndrome NGS Panel Fulgent Genetics United States	100	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Reference Laboratory Genetics Spain	85	77	C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Athena Diagnostics United States	57	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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