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Results: 1 to 20 of 29

Tests names and labsConditionsGenes and analytesMethods

Pseudoxanthoma elasticum

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

Pseudoxanthoma elasticum - Sanger / Del Dup Comprehensive

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

Pseudoxanthoma elasticum (PXE) - Deletion/Duplication

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

Pseudoxanthoma elasticum (PXE) - Sanger Sequencing

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

ABCC6 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pseudoxanthoma elasticum: ABCC6 gene deletions analysis (16.4Kb 23-29) and sequence analysis (exons 24, 28)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Pseudoxanthoma elasticum: ABCC6 gene deletions-duplicacions (MLPA) analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • D Deletion/duplication analysis

Single gene testing XYLT1

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

ABCC6 Gene Sequencing

GeneDx
United States
11
  • C Sequence analysis of the entire coding region

Pseudoxanthoma elasticum

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

Pseudoxanthoma elasticum (deletion/duplication analysis of ABCC6 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Connective Tissue Disorders Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
3335
  • C Sequence analysis of the entire coding region

Pseudoxanthoma elasticum (sequence analysis of ABCC6 gene)

CGC Genetics
Portugal
11
  • 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

GGCX mutational analysis

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

ABCC6 mutational analysis

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

ENPP1 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

XYLT2

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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