Clinical and research tests for C4083008 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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 Invitae United States	971	680	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS (Acute inflammatory demyelinating polyradiculoneuropathy) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS (Acute inflammatory demyelinating polyradiculoneuropathy) (PMP22 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Neuropathy, inflammatory demyelinating, 139393, Autosomal dominant (Acute inflammatory demyelinating polyradiculoneuropathy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Neuropathy, inflammatory demyelinating, 139393, Autosomal dominant (Acute inflammatory demyelinating polyradiculoneuropathy) (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 Hospital United States	480	254	C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States	123	52	D Deletion/duplication analysis 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
PMP22 Full Gene Sequencing Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States	6	1	C Sequence analysis of the entire coding region
PMP22 MLPA Duplication/Deletion Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States	6	1	D Deletion/duplication analysis
PMP22 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	85	30	C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	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.