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Results: 1 to 20 of 23 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Weill-Marchesani syndrome 1 - Sanger / Del Dup Comprehensive

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

Weill-Marchesani syndrome 1 (WMS1) - Deletion/Duplication

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

Weill-Marchesani syndrome 1 (WMS1) - Sanger Sequencing

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

Weill-Marchesani syndrome - AR

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

ADAMTS10. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Weill-Marchesani syndrome

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

ADAMTS10 mutational analysis

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

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

MYLK mutational analysis

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

FBN2 mutational analysis

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

SLC2A10 mutational analysis

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

ELN mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
191
  • E Sequence analysis of select exons

NOTCH1 mutational analysis

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

FLNA mutational analysis

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

ADAMTS10

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

Lysosomal Storage Disorders: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
8855
  • C Sequence analysis of the entire coding region

Weill-Marchesani Syndrome 1 (sequence analysis of ADAMTS10 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Weill-Marchesani syndrome: ADAMTS10 gene screening

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

Results: 1 to 20 of 23

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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