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Results: 21 to 40 of 82

Tests names and labsConditionsGenes and analytesMethods

MitoMet®Plus aCGH Analysis

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

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
4023
  • D Deletion/duplication analysis

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

AXENFELD-RIEGER SYNDROME (RIEGER DISEASE)

Laboratorio de Genetica Clinica SL
Spain
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Axenfeld-Rieger Syndrome Type 1 , Deletions-Duplications (MLPA) PITX2 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Axenfeld-Rieger Syndrome Type 1 , Sequencing PITX2 Gene

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

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

Invitae Early-Onset Glaucoma Panel

Invitae
United States
123
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glaucoma

Asper Biogene Asper Biogene LLC
Estonia
1920
  • C Sequence analysis of the entire coding region

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis

Asper Biogene Asper Biogene LLC
Estonia
3432
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Corneal Dystrophy Panel

Blueprint Genetics
Finland
115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glaucoma Panel

Blueprint Genetics
Finland
117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel

Blueprint Genetics
Finland
332
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Short Stature Syndrome Panel

Blueprint Genetics
Finland
461
  • D Deletion/duplication analysis
  • 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

Invitae Axenfeld-Rieger Panel

Invitae
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Cataracts Panel

Invitae
United States
4632
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 82

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.

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