Clinical and research tests for 105120 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Amyloidosis, Finnish type, 105120, Autosomal dominant (AGel amyloidosis) (GSN 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
Clinical exome sequencing Genotek Genotek Ltd. Russia	2	1	C Sequence analysis of the entire coding region
Drug Efficacy and Safety Genotek Genotek Ltd. Russia	47	1	S Mutation scanning of the entire coding region
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis 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
Invitae Corneal Dystrophies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	65	33	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Progressive Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	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
Corneal Dystrophies Panel PreventionGenetics, part of Exact Sciences United States	40	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Amyloidosis (Finnish Type) via the GSN Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Corneal dystrophy panel. NGS panel of 27 genes. Genologica Medica Spain	44	27	C Sequence analysis of the entire coding region
Familial Amyloidosis Genologica Medica Spain	44	19	C Sequence analysis of the entire coding region
Amyloidosis, Finnish Type Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region
Amyloidosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	8	8	C Sequence analysis of the entire coding region
Corneal Dystrophy NGS Panel Fulgent Genetics United States	47	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lattice Corneal Dystrophy Type II (GSN Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AMYLOIDOSIS Laboratorio de Genetica Clinica SL Spain	5	10	C Sequence analysis of the entire coding region
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia	367	291	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.