Clinical and research tests for RNF125 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Overgrowth Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypoglycemia Panel PreventionGenetics, part of Exact Sciences United States	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Tenorio syndrome, 616260, Autosomal dominant; TNORS (RNF125 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
RNF125 gene (Sequence Analysis-All Coding Exons) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Tenorio syndrome, 616260, Autosomal dominant; TNORS (RNF125 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region 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
Tenorio Syndrome via the RNF125 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Macrocephaly Panel Genetic Services Laboratory University of Chicago United States	26	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Clinically Recognized Syndromes Panel Mendelics Brazil	1	236	C Sequence analysis of the entire coding region
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
MACROCEPHALY AND OVERGROWTH SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	80	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Congenital Hypotonia Xpanded Panel GeneDx United States	10	1423	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Basal Ganglia Calcification Dystonia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	5	63	C Sequence analysis of the entire coding region
Carbohydrate Metabolism Deficiency (NGS Panel and Copy Number Analysis + mtDNA) MNG Laboratories (Medical Neurogenetics, LLC.) United States	10	52	C Sequence analysis of the entire coding region
Comprehensive Dementia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	10	145	C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia Xpanded Panel GeneDx United States	1	999	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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