Clinical and research tests for C0155299 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PAX6 gene mutation analysis Genetics and Molecular Pathology SA Pathology Australia	7	1	E Sequence analysis of select exons 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
PAX6 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Septo-optic Dysplasia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	17	8	D Deletion/duplication analysis
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
Invitae Corneal Dystrophies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	65	33	D Deletion/duplication analysis
Monogenic Diabetes Panel PreventionGenetics, part of Exact Sciences United States	101	54	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
Invitae Glaucoma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	57	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Coloboma of optic nerve, 120430, Autosomal dominant (Morning glory syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Coloboma of optic nerve, 120430, Autosomal dominant (Morning glory syndrome) (PAX6 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
Morning glory disc anomaly, 120430, Autosomal dominant (Morning glory syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Morning glory disc anomaly, 120430, Autosomal dominant (Morning glory syndrome) (PAX6 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
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
Aniridia via the PAX6 Gene PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cataract panel. NGS panel of 69 genes. Genologica Medica Spain	146	69	C Sequence analysis of the entire coding region
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain	220	139	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.