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Results: 1 to 20 of 39 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

Otopaladigital syndrome type1

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

Skeletal Disorders and Joint Problems Sequencing Panel

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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
Spain
7135
  • C Sequence analysis of the entire coding region

Aortic Valvular Diseases Panel

Health in Code
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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

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

OTOPALATODIGITAL SYNDROME

Laboratorio de Genetica Clinica SL
Spain
21
  • C Sequence analysis of the entire coding region

Otopalatodigital Associated Syndromes , Deletions-Duplications (MLPA) FLNA Gene

Reference Laboratory Genetics
Spain
21
  • D Deletion/duplication analysis

Otopalatodigital Associated Syndromes, 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

CustomNext-Epilepsy

Ambry Genetics
United States
10572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpilepsyNext

Ambry Genetics
United States
16085
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodevelopment-Expanded

Ambry Genetics
United States
105196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Potentially lethal skeletal disorders Panel

CeGaT GmbH
Germany
4544
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 39

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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