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Results: 1 to 20 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

OTX2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Septo-optic Dysplasia Panel

Invitae
United States
178
  • D Deletion/duplication analysis

Invitae Hypoglycemia Panel

Invitae
United States
173119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VACTERL Association and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pituitary hormone deficiency, combined, 6, 613986, Autosomal dominant; CPHD6 (Combined pituitary hormone deficiencies, genetic forms) (OTX2 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

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short stature with endocrinopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1614
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Short stature with endocrinopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1614
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short stature with endocrinopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1614
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Combined Pituitary Hormone Deficiency (CPHD) Panel

PreventionGenetics, part of Exact Sciences
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Septo-optic Dysplasia Spectrum Panel

PreventionGenetics, part of Exact Sciences
United States
118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

Leber Congential Amaurosis Panel (MitomeNGS)

Baylor Genetics
United States
3219
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

OTX2

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 45

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.