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Results: 1 to 20 of 21 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Spondylocostal dysostosis 3, 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 3, autosomal recessive (SCDO3) - Deletion/Duplication

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

Spondylocostal dysostosis 3, autosomal recessive (SCDO3) - Sanger Sequencing

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

Spondylocostal dysostosis, autosomal recessive type III

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

HES7. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

LFNG. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

MESP2. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

DLL3. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

Spondylocostal Dysostosis via the LFNG 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 3

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

Autosomal recessive spondylocostal dysostosis type 3

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

Spondylocostal dysostosis type 3 AR (sequence analysis of LFNG gene)

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

LFNG

Fulgent Genetics
United States
11
  • 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

Congenital Disorders of Glycosylation: Gene Sequencing and Deletion/Duplication Panel

Emory Genetics Laboratory Emory University
United States
8566
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LFNG-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

Results: 1 to 20 of 21

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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