Clinical and research tests for C4551964 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gaze palsy, horizontal, with progressive scoliosis, 607313, Autosomal recessive; HGPPS (Horizontal gaze palsy with progressive scoliosis) (ROBO3 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
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Strabismus Syndrome or Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Panel PreventionGenetics, part of Exact Sciences United States	14	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neuro-ophthalmology panel. NGS panel of 38 genes. Genologica Medica Spain	75	38	C Sequence analysis of the entire coding region
Gaze palsy, familial horizontal, with progressive scoliosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Neuro-Ophthalmic Disorders NGS Panel Fulgent Genetics United States	52	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Horizontal Gaze Palsy With Progressive Scoliosis (ROBO3 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 11 Genes Reference Laboratory Genetics Spain	10	7	C Sequence analysis of the entire coding region
Familial Horizontal Gaze Palsy with Progressive Scoliosis , Sequencing ROBO3 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Gaze palsy, horizontal, with progressive scoliosis Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing ROBO3 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
ROBO3 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Eye Disorders NGS Panel Fulgent Genetics United States	1018	459	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.