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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

Pulmonary Panel

Centogene AG - the Rare Disease Company
Germany
99101
  • 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
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

Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2A Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fibrosis of extraocular muscles, congenital 2 (sequence analysis of PHOX2A 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

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

FIBROSIS OF EXTRAOCULAR MUSCLES, TYPE 2 (CFEOM2)

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

PHOX2A 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
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

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 13 of 13

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.