Clinical and research tests for C2675556 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Encephalopathy, acute, infection-induced, 3, susceptibility to, 608033, Autosomal dominant; IIAE3 (Familial acute necrotizing encephalopathy) (RANBP2 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
Encephalopathy, acute, infection-induced, 3, susceptibility to, 608033, Autosomal dominant; IIAE3 (Familial acute necrotizing encephalopathy) (RANBP2 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 Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Encephalopathy, acute, infection-induced: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	8	8	C Sequence analysis of the entire coding region
Acute Necrotizing Encephalopathy Type 1 (RANBP2 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ENCEPHALOPATHY, NECROTIZING, FAMILIAL ACUTE Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Susceptibility to Infection-Induced Acute Encephalopathy 3: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Familial Acute Necrotizing Encephalopathy , Sequencing RANBP2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
RANBP2 MGZ Medical Genetics Center Germany	1	1	E Sequence analysis of select exons
Familial acute necrotizing encephalopathy Bioarray Spain	1	1	C Sequence analysis of the entire coding region
RANBP2 Common Mutations Analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	T Targeted variant analysis
RANBP2 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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