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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TGFBI Gene Corneal dystrophy, epithelial basement membrane NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
TGFBI gene mutation analysis Genetics and Molecular Pathology SA Pathology Australia	7	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
Invitae Corneal Dystrophies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	65	33	D Deletion/duplication analysis
Corneal dystrophy, Reis-Bucklers type, 608470; CDRB (Reis-Bücklers corneal dystrophy) (TGFBI 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, Groenouw type I, 121900, Autosomal dominant; CDGG1 (Granular corneal dystrophy type I) (TGFBI 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, epithelial basement membrane, 121820, Autosomal dominant; EBMD (Microcystic corneal dystrophy) (TGFBI 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, Thiel-Behnke type, 602082, Autosomal dominant; CDTB (Thiel-Behnke corneal dystrophy) (TGFBI 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, Avellino type, 607541, Autosomal dominant; CDA (Granular corneal dystrophy type II) (TGFBI 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, lattice type IIIA, 608471, Autosomal dominant; CDL3A (Lattice corneal dystrophy type I) (TGFBI 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, lattice type I, 122200, Autosomal dominant; LCD1 (Lattice corneal dystrophy type I) (TGFBI 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 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
TGFBI-Associated Corneal Dystrophies via the TGFBI Gene PreventionGenetics, part of Exact Sciences United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary amyloidosis (WES based NGS panel of 21 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	21	C Sequence analysis of the entire coding region
Corneal dystrophy (sequencing and CNV analysis of TGFBI gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Corneal dystrophy, Avellino type (mutations pArg555trp and pArg124His on TGFBI gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Corneal Diseases Panel Mendelics Brazil	1	28	C Sequence analysis of the entire coding region
HEREDITARY AMYLOIDOSIS SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain	1	22	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

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