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Results: 1 to 16 of 16 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Spondylocostal dysostosis 2, autosomal recessive - Sanger / Del Dup Comprehensive

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

Spondylocostal dysostosis 2, autosomal recessive (SCDO2) - Deletion/Duplication

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

Spondylocostal dysostosis 2, autosomal recessive (SCDO2) - Sanger Sequencing

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

Spondylocostal dysostosis, autosomal recessive type II

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

HES7, MESP2, LFNG, DLL3. NextGeneDx. Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
34
  • C Sequence analysis of the entire coding region

Spondylocostal Dysostosis and Spondylothoracic Dysostosis via the MESP2 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylocostal Dysostosis Sequencing Panel

PreventionGenetics
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylocostal dysostosis, autosomal recessive

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
44
  • C Sequence analysis of the entire coding region

Congenital disorder of O-linked glycosylation (CDG)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3929
  • C Sequence analysis of the entire coding region

Autosomal recessive spondylocostal dysostosis type 2

Bioarray
Spain
11
  • D Deletion/duplication analysis

Autosomal recessive spondylocostal dysostosis type 2

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

Spondylocostal dysostosis type 2 AR (sequence analysis of MESP2 gene)

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

MESP2

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondylocostal Dysostosis NGS Panel

Fulgent Genetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MESP2-Related Spondylocostal Dysostosis, Autosomal Recessive

Exeter Molecular Genetics Laboratory
United Kingdom
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

MESP2 - Spondylocostal dysostosis 2

Centre of Molecular Diseases (CMM) CHUV
Switzerland
11
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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