Clinical and research tests for C0007959 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 41

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hearing Loss Test GeneDx United States	56	150	D Deletion/duplication analysis E Sequence analysis 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
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peroxisomal Disorders Sequencing Panel Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Czech Republic	14	34	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Neuropathy Panel Blueprint Genetics Finland	1	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Syndrome Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	5	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC25A46 Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
SBF1 Single Gene Fulgent Genetics United States	15	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LRRN4CL Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MARS Single Gene Fulgent Genetics United States	19	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COX6A1 Single Gene Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DHTKD1 Single Gene Fulgent Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GNB4 Single Gene Fulgent Genetics United States	9	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
180K CGH+SNP microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	231	1	D Deletion/duplication analysis H Detection of homozygosity
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 Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	4	1	D Deletion/duplication analysis
Charcot-Marie-Tooth and Sensory Neuropathies Panel CeGaT GmbH Germany	63	84	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Disease Asper Biogene Asper Biogene LLC Estonia	89	74	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot Marie Tooth Disease Extended NGS Panel Fulgent Genetics United States	172	59	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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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.