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Results: 1 to 20 of 47 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

Periventricular heterotopia, X-linked dominant (PVNH1) - Sanger Sequencing

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

Periventricular heterotopia, Ehlers-Danlos variant (PVNH4) - Sanger Sequencing

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

Heterotopia, periventricular, X-linked dominant

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

Heterotopia, periventricular, ED variant

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

Cerebral Cortical Malformation Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
5453
  • C Sequence analysis of the entire coding region

Thrombocytopenia Sequencing Panel - Expanded

PreventionGenetics
United States
2925
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Aortic diseases Panel

Health in Code S.L.
Spain
7135
  • C Sequence analysis of the entire coding region

FLNA

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

Aortic Valvular Diseases Panel

Health in Code S.L.
Spain
6030
  • C Sequence analysis of the entire coding region

Craniofacial Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2727
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndrome Sequencing Panel

PreventionGenetics
United States
1818
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FLNA. Complete sequencing

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

FLNA. Sequencing of the exons 3, 4, 5, 11, 22, 28 and 29

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA gene

PreventionGenetics
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Periventricular Nodular Heterotopia, Sequencing FLNA Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Ehlers-Danlos Syndrome Panel

Invitae
United States
3514
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
14783
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain Malformation Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Atypical Ehlers-Danlos Syndrome Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
2111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy

Asper Biotech Asper Biotech Ltd.
Estonia
121123
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 47

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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