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Results: 1 to 20 of 29

Tests names and labsConditionsGenes and analytesMethods

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 with CNV Detection

PreventionGenetics
United States
327258
  • 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

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

Epilepsy and Seizure Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
164107
  • D Deletion/duplication analysis

Disproportionate Short Stature: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
19876
  • C Sequence analysis of the entire coding region

Brain Malformations: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
9250
  • 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

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

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing FLNA

CeGaT GmbH
Germany
91
  • C Sequence analysis of the entire coding region

FLNA

Fulgent Genetics
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FLNA

Institute for Human Genetics University Clinic Freiburg
Germany
91
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Neurology: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
255164
  • C Sequence analysis of the entire coding region

Disproportionate Short Stature: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
20785
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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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