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Results: 1 to 20 of 52 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

Microphthalmia syndromic type 4

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

Microphthalmia panel

Centogene AG - the Rare Disease Company
Germany
113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
122107
  • 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

Agnathia-Otocephaly Complex Sanger Sequencing Panel

PreventionGenetics
United States
12
  • 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 Genetics
United States
21
  • C Sequence analysis of the entire coding region

OTX2 Prenatal Sequence Analysis

Baylor Genetics
United States
21
  • E Sequence analysis of select exons

OTX2 Familial Mutation/Variant Analysis

Baylor Genetics
United States
21
  • E Sequence analysis of select exons

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
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

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
134136
  • C Sequence analysis of the entire coding region

Neuro-Ophthalmology Panel

Blueprint Genetics
Finland
326
  • 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

Retinal Dystrophy Panel

Blueprint Genetics
Finland
1181
  • 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

Septo-Optic Dysplasia Panel

Blueprint Genetics
Finland
14
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 52

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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