Clinical and research tests for C3495591 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	287	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	122	128	E Sequence analysis of select exons
Peripheral Myelin Protein 22 (PMP22) gene sequencing test Neurogenetics Cyprus Institute of Neurology and Genetics Cyprus	1	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
PMP22 - MLPA Centogene AG - the Rare Disease Company Germany	6	1	D Deletion/duplication analysis
PMP22 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	6	1	C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	405	219	D Deletion/duplication analysis
Charcot-Marie-Tooth disease, type 1E, 118300, Autosomal dominant (Charcot-Marie-Tooth disease type 1E) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Charcot-Marie-Tooth disease, type 1E, 118300, Autosomal dominant (Charcot-Marie-Tooth disease type 1E) (PMP22 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 University, School of Medicine 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
Invitae Comprehensive Neuropathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	123	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PMP22 Full Gene Sequencing (no CNV) MNG Laboratories (Medical Neurogenetics, LLC.) United States	2	1	C Sequence analysis of the entire coding region
PMP22 Institute for Human Genetics University Medical Center Freiburg Germany	6	1	C Sequence analysis of the entire coding region
PMP22 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	6	1	D Deletion/duplication analysis
Genetic Test for Charcot-Marie-Tooth type 1E CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology Portugal	1	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.