Clinical and research tests for 3236 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HOXD10 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
Charcot-Marie-Tooth disease, foot deformity of, 192950, Autosomal dominant (HOXD10 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
Vertical talus, congenital, 192950, Autosomal dominant; CVT (Congenital vertical talus) (HOXD10 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
Neuromuscular Disorders Panel CGC Genetics Unilabs Portugal	17	367	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease (WES based NGS panel of 43 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	43	C Sequence analysis of the entire coding region
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
Congenital vertical talus (sequence analysis of HOXD10 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
CHARCOT-MARIE-TOOTH EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	151	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
CoGenesis@Neuro Codex Genetics Limited Hong Kong	1	490	T Targeted variant analysis
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
Neuromuscular disorders - different panels Institute of Human Genetics Cologne University Germany	16	474	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	34	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth and Sensory Neuropathies Panel CeGaT GmbH Germany	63	84	C Sequence analysis of the entire coding region
HOXD10 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	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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