Clinical and research tests for C1854449 - 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
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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States	57	28	D Deletion/duplication analysis
Invitae Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Hemolytic Anemia Panel Invitae United States	74	39	D Deletion/duplication analysis
Neuropathy, hereditary motor and sensory, Russe type, 605285, Autosomal recessive; HMSNR (Charcot-Marie-Tooth disease type 4G) (HK1 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
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	82	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Retinitis pigmentosa panel Genologica Medica Spain	164	108	C Sequence analysis of the entire coding region
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	C Sequence analysis of the entire coding region
Hyperinsulinism Asper Biogene Asper Biogene LLC Estonia	31	12	C Sequence analysis of the entire coding region
HK1 Institute for Human Genetics University Medical Center Freiburg Germany	4	1	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	67	54	C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypoglycemia NGS Panel Fulgent Genetics United States	71	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes Reference Laboratory Genetics Spain	11	11	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Reference Laboratory Genetics Spain	41	32	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.