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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Isolated aniridia Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Aniridia, PAX6 sequencing Molecular Diagnostics Laboratory Seoul National University Hospital South Korea	1	1	C Sequence analysis of the entire coding region
Isolated Aniridia MGZ Medical Genetics Center Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital aniridia Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072, Autosomal dominant, Somatic mutation; WAGR (WAGR syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072, Autosomal dominant, Somatic mutation; WAGR (WAGR syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Aniridia , Peters anomaly , Foveal hypoplasia 1 , Hereditary keratitis , Optic nerve hypoplasia , Coloboma of optic nerve (sequence analysis of PAX6 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Aniridia , Peters anomaly , Foveal hypoplasia 1 , Hereditary keratitis , Optic nerve hypoplasia , Coloboma of optic nerve (deletion/duplication analysis on PAX6 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Wilms Tumor-Aniridia-Genetial Anomalies-Retardation syndrome Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet Denmark	1	1	D Deletion/duplication analysis
Ataxia and differential diagnoses Panel CeGaT GmbH Germany	173	204	C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	130	81	D Deletion/duplication analysis
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
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
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
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	157	171	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
Axenfeld-Rieger Syndrome Panel PreventionGenetics, part of Exact Sciences United States	14	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.