Clinical and research tests for 170692 - 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
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Microphthalmia/Anophthalmia/Coloboma Panel PreventionGenetics, part of Exact Sciences United States	73	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458, Autosomal recessive; MMCAT (Microcornea-myopic chorioretinal atrophy-telecanthus syndrome) (ADAMTS18 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 Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	D Deletion/duplication analysis 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
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	130	81	D Deletion/duplication analysis
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States	1	394	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Retinitis Pigmentosa Panel CGC Genetics Unilabs Portugal	1	203	C Sequence analysis of the entire coding region
Retinal Dystrophy Panel CGC Genetics Unilabs Portugal	1	306	C Sequence analysis of the entire coding region
Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis) CGC Genetics Unilabs Portugal	1	307	C Sequence analysis of the entire coding region
Cataract Panel CGC Genetics Unilabs Portugal	1	118	C Sequence analysis of the entire coding region
Microphthalmia, Anophthalmia and Coloboma Panel CGC Genetics Unilabs Portugal	1	91	C Sequence analysis of the entire coding region
Microcornea, myopic chorioretinal atrophy and telecanthus (sequence analysis of ADAMTS18 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
CONGENITAL CATARACTS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	120	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
Cataract panel. NGS panel of 69 genes. Genologica Medica Spain	146	69	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.