Clinical and research tests for C1306122 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Oguchi disease-1, 258100, Autosomal recessive (Oguchi disease) (SAG gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Oguchi disease-1, 258100, Autosomal recessive (Oguchi disease) (SAG 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
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Congenital Stationary Night Blindness Panel PreventionGenetics, part of Exact Sciences United States	18	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oguchi Disease and Retinitis Pigmentosa (RP47) via the SAG Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SAG Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis
SAG Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SAG Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
SAG Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Stationary Night Blindness NGS Panel Fulgent Genetics United States	27	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL RECESSIVE) Laboratorio de Genetica Clinica SL Spain	6	6	C Sequence analysis of the entire coding region
OGUCHI DISEASE Laboratorio de Genetica Clinica SL Spain	2	2	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
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Congenital Stationary Night Blindness panel Molecular Vision Laboratory United States	19	14	C Sequence analysis of the entire coding region
Retinal Dystrophy Panel Molecular Vision Laboratory United States	372	283	C Sequence analysis of the entire coding region
SAG Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Stationary Night Blindness Asper Biogene Asper Biogene LLC Estonia	10	10	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 23

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.