Clinical and research tests for C1865915 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Pulmonary Panel Centogene AG - the Rare Disease Company Germany	99	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fibrosis of extraocular muscles, congenital, 2, 602078, Autosomal recessive; CFEOM2 (Congenital fibrosis of extraocular muscles) (PHOX2A 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
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
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2A 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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Fibrosis of extraocular muscles, congenital 2 (sequence analysis of PHOX2A gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Neuro-ophthalmology panel. NGS panel of 38 genes. Genologica Medica Spain	75	38	C Sequence analysis of the entire coding region
Congenital Fibrosis of Extraocular Muscles Asper Biogene Asper Biogene LLC Estonia	4	4	C Sequence analysis of the entire coding region
Fibrosis of extraocular muscles, congenital: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	4	C Sequence analysis of the entire coding region
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Reference Laboratory Genetics Spain	119	95	C Sequence analysis of the entire coding region
Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes Reference Laboratory Genetics Spain	4	4	C Sequence analysis of the entire coding region
FIBROSIS OF EXTRAOCULAR MUSCLES, TYPE 2 (CFEOM2) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Congenital Extraocular Muscles Fibrosis Type 2 , Sequencing PHOX2A Gene Reference Laboratory Genetics Spain	1	1	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
PHOX2A 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
Congenital Fibrosis of Extraocular Muscles Type Engle Laboratory Boston Children's Hospital United States	9	4	L Linkage analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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