Clinical and research tests for RNF213 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RNF213 Gene Moyamoya disease type 2, susceptibility to NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Cerebrovascular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	23	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Moyamoya Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Moyamoya disease 2, susceptibility to, 607151; MYMY2 (Moyamoya disease) (RNF213 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
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
Cerebral vascular malformations (WES based NGS panel of 30 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	30	C Sequence analysis of the entire coding region
Moyamoya disease (panel NGS basado en WES de 3 genes, incluyendo análisis de CNVs) CGC Genetics Unilabs Portugal	1	3	C Sequence analysis of the entire coding region
Moyamoya disease (sequencing and CNV analysis of RNF213 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Moyamoya disease (deletion/duplication analysis on RNF213 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
MI Tumor Seek Hybrid Caris Life Sciences United States	1	591	R RNA analysis C Sequence analysis of the entire coding region
SUDDEN DEATH/ IDIOPATHIC VENTRICULAR FIBRILLATION EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	394	E Sequence analysis of select exons
RNF213. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain	1	1	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
Xpanded Adult Movement Disorders Panel GeneDx United States	5	473	C Sequence analysis of the entire coding region
Moyamoya disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	3	C Sequence analysis of the entire coding region
Moyamoya Disease (RNF213 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MOYAMOYA DISEASE Laboratorio de Genetica Clinica SL Spain	1	2	C Sequence analysis of the entire coding region
Caris MI TumorSeek Comprehensive Genomic Profile Caris Life Sciences United States	1	591	R RNA analysis C Sequence analysis of the entire coding region
RNF213 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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