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Results: 41 to 60 of 81

Tests names and labsConditionsGenes, analytes, and microbesMethods

EFEMP2

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Cutis laxa: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
129
  • C Sequence analysis of the entire coding region

EFEMP2-Related Cutis Laxa: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndrome

Asper Biogene Asper Biogene LLC
Estonia
6937
  • C Sequence analysis of the entire coding region

Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes

Reference Laboratory Genetics
Spain
4239
  • C Sequence analysis of the entire coding region

Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes

Reference Laboratory Genetics
Spain
1512
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
123124
  • C Sequence analysis of the entire coding region

CUTIS LAXA (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
56
  • C Sequence analysis of the entire coding region

Connective Tissue Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
4440
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel - Cutis laxa

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
58
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Autosomal recessive cutis laxa type 1

Bioarray
Spain
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

LTBP4 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
141
  • E Sequence analysis of select exons

ADAMTS10 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

Cutis laxa gene panel

Connective Tissue Laboratory Ghent University Hospital
Belgium
1411
  • C Sequence analysis of the entire coding region

EFEMP2 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
221
  • E Sequence analysis of select exons

HAD panel 2

Connective Tissue Laboratory Ghent University Hospital
Belgium
109
  • C Sequence analysis of the entire coding region

PRKG1 mutatioal analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

COG7 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
141
  • E Sequence analysis of select exons

Results: 41 to 60 of 81

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.