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Results: 101 to 116 of 116

Tests names and labsConditionsGenes, analytes, and microbesMethods

Mental Retardation and Dysmorphology - panels

MGZ Medical Genetics Center
Germany
15343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vascular and connective tissue diseases - panels

MGZ Medical Genetics Center
Germany
367
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pseudoxanthoma elasticum

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
3435
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm

CeGaT GmbH
Germany
3844
  • C Sequence analysis of the entire coding region

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm

CeGaT GmbH
Germany
3844
  • C Sequence analysis of the entire coding region

ABCC6 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
61
  • E Sequence analysis of select exons

Pseudoxanthoma Elasticum (PXE) gene panel

Connective Tissue Laboratory Ghent University Hospital
Belgium
63
  • C Sequence analysis of the entire coding region

Macrocephaly

MGZ Medical Genetics Center
Germany
142
  • C Sequence analysis of the entire coding region

Teenager Stroke / Stroke-Like Episodes

MGZ Medical Genetics Center
Germany
221
  • C Sequence analysis of the entire coding region

ABCC6 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue NGS Panel

Fulgent Genetics
United States
18760
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystic Fibrosis and CBAVD Testing

FirmaLab
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 101 to 116 of 116

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.