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Results: 1 to 20 of 89 (representing 30 labs)

Tests names and labsConditionsGenes and analytesMethods

Porencephaly 1 - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain small vessel disease with or without ocular anomalies - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Porencephaly 1 (POREN1) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Brain small vessel disease with or without ocular anomalies (BSVD) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Porencephaly, familial

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

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

COL4A1

Amplexa Genetics Amplexa Genetics A/S
Denmark
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

KidneySeq - 264 Genes

Iowa Institute of Human Genetics University of Iowa
United States
6262
  • C Sequence analysis of the entire coding region

Glaucoma Sequencing Panel

PreventionGenetics
United States
2612
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Axenfeld-Rieger Syndrome Sequencing Panel

PreventionGenetics
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

COL4A1, COL4A2. NextGeneDx. Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
12
  • C Sequence analysis of the entire coding region

COL4A1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

COL4A1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Hereditary kidney disorders - different panels

Institute of Human Genetics Cologne University
Germany
28411
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
6867
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 89

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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