Clinical and research tests for RCBTB1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Retinal dystrophy with or without extraocular anomalies, 617175, Autosomal recessive; RDEOA (Reticular dystrophy of the retinal pigment epithelium) (RCBTB1 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
Retinal dystrophy with or without extraocular anomalies, 617175, Autosomal recessive; RDEOA (Reticular dystrophy of the retinal pigment epithelium) (RCBTB1 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
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Exudative Vitreoretinopathy via the RCBTB1 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
Comprehensive Vitreoretinopathy Panel PreventionGenetics, part of Exact Sciences United States	26	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States	1	394	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Retinitis Pigmentosa Panel CGC Genetics Unilabs Portugal	1	203	C Sequence analysis of the entire coding region
Retinal Dystrophy Panel CGC Genetics Unilabs Portugal	1	306	C Sequence analysis of the entire coding region
Neuro-Ophthalmology Panel CGC Genetics Unilabs Portugal	1	223	C Sequence analysis of the entire coding region
Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis) CGC Genetics Unilabs Portugal	1	307	C Sequence analysis of the entire coding region
Premature ovarian failure (WES based NGS panel of 47 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	47	C Sequence analysis of the entire coding region
Vitreoretinopathy (WES based NGS panel of 27 genes, including analysis of CNVs ) CGC Genetics Unilabs Portugal	1	27	C Sequence analysis of the entire coding region
Hereditary Retinopathy Panel Mendelics Brazil	1	321	C Sequence analysis of the entire coding region
Comprehensive Eye panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	695	C Sequence analysis of the entire coding region
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
RCBTB1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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