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Results: 1 to 20 of 26

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

Invitae
United States
6741
  • D Deletion/duplication analysis

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Hereditary Cerebral Small Vessel Disease Panel

Invitae
United States
2410
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Invitae Glaucoma Panel

Invitae
United States
5727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anterior segment dysgenesis 3, multiple subtypes, 601631, Autosomal dominant; ASGD3 (Rieger anomaly) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cerebral Small Vessel Disease Panel

PreventionGenetics, part of Exact Sciences
United States
1310
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Comprehensive Cataracts Panel

PreventionGenetics, part of Exact Sciences
United States
157171
  • 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

Invitae
United States
13081
  • D Deletion/duplication analysis

Glaucoma Panel

PreventionGenetics, part of Exact Sciences
United States
3824
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

FOXC1-Related Disorders via the FOXC1 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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

FOXC1 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

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Structural Heart Disease NGS Panel

Fulgent Genetics
United States
7328
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Axenfeld-Rieger NGS Panel

Fulgent Genetics
United States
133
  • D Deletion/duplication analysis
  • 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

Results: 1 to 20 of 26

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.