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Results: 1 to 20 of 38 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

Septo-optic Dysplasia Spectrum Sequencing Panel

PreventionGenetics
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
300280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leber Congenital Amaurosis Sequencing Panel

PreventionGenetics
United States
2728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Anophthalmia / Microphthalmia Sequencing Panel

PreventionGenetics
United States
1817
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Syndromic Microphthalmia via the OTX2 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

OTX2 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • C Sequence analysis of the entire coding region

OTX2 Prenatal Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • E Sequence analysis of select exons

OTX2 Familial Mutation/Variant Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • E Sequence analysis of select exons

Leber Congential Amaurosis Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
3219
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

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

Microphthalmia, Pituitary Hormone Deficiency, Retinal Dystrophy - OTX2 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
2524
  • C Sequence analysis of the entire coding region

ANOPHTHALMIA/ MICROPHTALMIA

Laboratorio de Genetica Clinica SL
Spain
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Septooptic dysplasia (NGS panel for 17 genes)

CGC Genetics
Portugal
1617
  • C Sequence analysis of the entire coding region

Septooptic dysplasia (NGS panel for 17 genes)

CGC Genetics
Portugal
1617
  • C Sequence analysis of the entire coding region

Septo-Optic Dysplasia , Sequencing OTX2 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 Leber Congenital Amaurosis Panel

Invitae
United States
3719
  • D Deletion/duplication analysis
  • 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

Results: 1 to 20 of 38

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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