Clinical and research tests for C1851102 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KIF21A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fibrosis of extraocular muscles, congenital, 1, 135700, Autosomal dominant; CFEOM1 (Congenital fibrosis of extraocular muscles) (KIF21A 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
Fibrosis of extraocular muscles, congenital, 3B, 135700, Autosomal dominant (Congenital fibrosis of extraocular muscles) (KIF21A 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
Fibrosis of extraocular muscles, congenital type 1 (sequence analysis of KIF21A 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
FIBROSIS OF EXTRAOCULAR MUSCLES, TYPE 1 (CFEOM1) Laboratorio de Genetica Clinica SL Spain	1	1	E Sequence analysis of select exons 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
KIF21A 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	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
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 17 of 17

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