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Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

KIF21A - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • 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
11
  • 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
11
  • 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
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Fibrosis of extraocular muscles, congenital type 1 (sequence analysis of KIF21A gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Neuro-ophthalmology panel. NGS panel of 38 genes.

Genologica Medica
Spain
7538
  • C Sequence analysis of the entire coding region

Congenital Fibrosis of Extraocular Muscles

Asper Biogene Asper Biogene LLC
Estonia
44
  • 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
54
  • C Sequence analysis of the entire coding region

Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes

Reference Laboratory Genetics
Spain
44
  • C Sequence analysis of the entire coding region

FIBROSIS OF EXTRAOCULAR MUSCLES, TYPE 1 (CFEOM1)

Laboratorio de Genetica Clinica SL
Spain
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Congenital Extraocular Muscles Fibrosis Types 1 and 3B, Sequencing KIF21A Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
367291
  • C Sequence analysis of the entire coding region

KIF21A Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • 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
94
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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