Clinical and research tests for COL8A2 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Corneal Dystrophies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	65	33	D Deletion/duplication analysis
Invitae Glaucoma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	57	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Corneal dystrophy, posterior polymorphous 2, 609140; PPCD2 (Posterior polymorphous corneal dystrophy) (COL8A2 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
Corneal dystrophy, Fuchs endothelial, 1, 136800, Autosomal dominant (Fuchs endothelial corneal dystrophy) (COL8A2 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
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Glaucoma Panel PreventionGenetics, part of Exact Sciences United States	38	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Corneal Diseases Panel Mendelics Brazil	1	28	C Sequence analysis of the entire coding region
GLAUCOMA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	50	E Sequence analysis of select exons
Comprehensive Eye panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	695	C Sequence analysis of the entire coding region
Corneal dystrophy panel. NGS panel of 27 genes. Genologica Medica Spain	44	27	C Sequence analysis of the entire coding region
Corneal dystrophy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	19	11	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Early Onset Glaucoma Gene Sequencing Panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	37	E Sequence analysis of select exons
Ectopia Lentis Asper Biogene Asper Biogene LLC Estonia	30	18	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
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia	367	291	C Sequence analysis of the entire coding region
Corneal Dystrophy Panel Blueprint Genetics Finland	1	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Eye Diseases - panels MGZ Medical Genetics Center Germany	6	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL8A2 Single Gene Fulgent Genetics United States	2	1	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.