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Results: 41 to 60 of 69

Tests names and labsConditionsGenes, analytes, and microbesMethods

FKBP14

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

Ehlers-Danlos syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2020
  • 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

Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes

Reference Laboratory Genetics
Spain
1113
  • C Sequence analysis of the entire coding region

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndrome Kyphoscoliotic and Deafness Type , Sequencing FKBP14 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Comprehensive Ehlers-Danlos Syndrome Panel

Collagen Diagnostic Laboratory University Of Washington
United States
913
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Kyphoscoliotic Ehlers-Danlos syndrome (FKBP14 and PLOD1)

Collagen Diagnostic Laboratory University Of Washington
United States
21
  • 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

Congenital and Distal Myopathies Panel

CeGaT GmbH
Germany
4973
  • 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

B4GALT7 mutational analysis

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

FKBP14 mutational analysis

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

XYLT1 mutational analysis

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

CHST14 mutational analysis

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

B3GALT6 mutational analysis

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

B3GAT3 mutational analysis

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

ADAMTS2 mutational analysis

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

Results: 41 to 60 of 69

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.