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Results: 1 to 20 of 28

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoCancer

Centogene AG - the Rare Disease Company
Germany
11368
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

ALDH1A3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

CentoDysmorph Panel

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

Microphthalmia/Anophthalmia/Coloboma Panel

PreventionGenetics, part of Exact Sciences
United States
7355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microphthalmia, isolated 8, 615113, Autosomal recessive; MCOP8 (Isolated anophthalmia-microphthalmia syndrome) (ALDH1A3 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

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
272278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microphthalmia

Amplexa Genetics Amplexa Genetics A/S
Denmark
148
  • S Mutation scanning of the entire coding region

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

Labcorp Genetics (formerly Invitae) LabCorp
United States
13081
  • D Deletion/duplication analysis

Microphthalmia, Anophthalmia and Coloboma Panel 

CGC Genetics Unilabs
Portugal
191
  • C Sequence analysis of the entire coding region

Microphthalmia isolated 8 (sequence analysis of ALDH1A3 gene)

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

Comprehensive Eye panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
1695
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microphthalmia, isolated: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
77
  • C Sequence analysis of the entire coding region

Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel

Fulgent Genetics
United States
24478
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anophthalmia/microphthalmia

Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet
Denmark
1129
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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.