Clinical and research tests for KIF1B - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KIF1B Gene CMT2A1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Tempus xT Tempus Labs, Inc. United States	2	646	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Charcot Marie Tooth Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	46	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States	1	335	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	155	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KIF1B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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
Penn Cancer Grant Panel Ambry Genetics United States	79	80	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease, type 2A1, 118210, Autosomal dominant; CMT2A1 (Autosomal dominant Charcot-Marie-Tooth disease type 2A1) (KIF1B 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
Pheochromocytoma, 171300, Autosomal dominant (Hereditary pheochromocytoma-paraganglioma) (KIF1B 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
Neuroblastoma, susceptibility to, 1, 256700, Autosomal dominant, Isolated cases (Neuroblastoma) (KIF1B 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
Variant Resolution Test for CancerNext-Expanded® (+RNAinsight®) Ambry Genetics United States	95	71	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Pediatric Cancer Panel PreventionGenetics, part of Exact Sciences United States	77	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PGLNext® Ambry Genetics United States	26	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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