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Results: 1 to 14 of 14

Tests names and labsConditionsGenes and analytesMethods

Tempus xO assay

Tempus Labs, Inc.
United States
11714
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Central hypoventilation syndrome, congenital

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

Fibrosis of extraocular muscles, congenital type II

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

Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection

PreventionGenetics
United States
1110
  • 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
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel

PreventionGenetics
United States
37
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

FIBROSIS OF EXTRAOCULAR MUSCLES, TYPE 2 (CFEOM2)

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

Congenital Extraocular Muscles Fibrosis Type 2 , Sequencing PHOX2A Gene

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

Eye Diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
6167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

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

PHOX2A

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

PHOX2A-Related Congenital Fibrosis of the Extraocular Muscles

Exeter Molecular Genetics Laboratory
United Kingdom
11
  • E Sequence analysis of select exons
  • 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 14 of 14

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