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Results: 21 to 40 of 65

Tests names and labsConditionsGenes, analytes, and microbesMethods

Autosomal Recessive Isolated Ectopia Lentis-2 via the ADAMTSL4 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ectopia Lentis 2 (ADAMTSL4) Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • T Targeted variant analysis

Connective Tissue Disorders Panel

Baylor Genetics
United States
192
  • C Sequence analysis of the entire coding region

Genomic Unity® Retinal Disorders Analysis

Variantyx, Inc.
United States
1394
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
169
  • C Sequence analysis of the entire coding region

Ehlers-Danlos and Marfan Syndromes Panel 

CGC Genetics Unilabs
Portugal
185
  • C Sequence analysis of the entire coding region

Familial ectopia lentis (sequence analysis of ADAMTSL4 gene)

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

Familial ectopia lentis (deletion/duplication analysis on ADAMTSL4 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Marfan Syndrome and Associated Diseases Panel

Mendelics
Brazil
160
  • C Sequence analysis of the entire coding region

CONGENITAL CATARACTS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1120
  • E Sequence analysis of select exons

CRANIOSYNOSTOSIS PANEL

Laboratorio de Genetica Clinica SL
Spain
185
  • E Sequence analysis of select exons

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

THORACIC AORTIC ANEURYSM AND DISSECTION EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
139
  • E Sequence analysis of select exons

Cataract panel. NGS panel of 69 genes.

Genologica Medica
Spain
14669
  • C Sequence analysis of the entire coding region

Marfan syndrome panel. 30-gene NGS panel.

Genologica Medica
Spain
7130
  • C Sequence analysis of the entire coding region

Aortic disease panel. 41-gene NGS panel.

Genologica Medica
Spain
9441
  • 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

ADAMTSL4 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

Connective Tissue and Aortopathy Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
163
  • E Sequence analysis of select exons

Results: 21 to 40 of 65

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.