Clinical and research tests for C1843153 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MPZ Gene Sequencing GENETIX Centro de Investigación en Genética Humana y Reproductiva Colombia	4	1	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 T Targeted variant analysis
MPZ - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease, type 2J, 607736, Autosomal dominant (Autosomal dominant Charcot-Marie-Tooth disease type 2J) (MPZ 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	50	43	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	50	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Neuropathy Panel PreventionGenetics United States	82	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth - Axonal Neuropathy Panel PreventionGenetics United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth - Comprehensive Panel PreventionGenetics United States	53	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth - Demyelinating Neuropathy Panel PreventionGenetics United States	34	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MPZ-Related Neuropathies via the MPZ Gene PreventionGenetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States	123	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MPZ Institute for Human Genetics University Medical Center Freiburg Germany	7	1	C Sequence analysis of the entire coding region
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
MPZ Full Gene Sequencing Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States	7	1	C Sequence analysis of the entire coding region
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MPZ - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	8	1	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.