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Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

Marfan Syndrome and Related Aortopathies Panel

PreventionGenetics, part of Exact Sciences
United States
4038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Traboulsi syndrome, 601552, Autosomal recessive; FDLAB (Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome) (ASPH 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

Cardiac channelopathies panel

Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS
Italy
933
  • S Mutation scanning of the entire coding region

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

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

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

Axenfeld-Rieger Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
1410
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ocular anterior segment mesenchymal dysgenesis (WES based NGS panel of 18 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
118
  • C Sequence analysis of the entire coding region

Cardiovascular panel _v.2.0

CGC Genetics Unilabs
Portugal
1264
  • C Sequence analysis of the entire coding region

Ectopia lentis panel. 14-gene NGS panel.

Genologica Medica
Spain
2614
  • 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

Ectopia Lentis

Asper Biogene Asper Biogene LLC
Estonia
3018
  • C Sequence analysis of the entire coding region

Ectopia Lentis NGS Panel

Fulgent Genetics
United States
4915
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ectopia Lentis Panel

Blueprint Genetics
Finland
114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sudden Cardiac Death

Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS
Italy
231
  • S Mutation scanning of the entire coding region

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis

Asper Biogene Asper Biogene LLC
Estonia
3735
  • C Sequence analysis of the entire coding region

Eye Diseases - panels

MGZ Medical Genetics Center
Germany
6167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ASPH Single Gene

Fulgent Genetics
United States
101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ectopia Lentis

MGZ Medical Genetics Center
Germany
210
  • C Sequence analysis of the entire coding region

Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome

MGZ Medical Genetics Center
Germany
214
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.