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Results: 1 to 20 of 26

Tests names and labsConditionsGenes and analytesMethods

Geleophysic dysplasia

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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

PreventionGenetics
United States
15493
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos Syndromes Panel

PreventionGenetics
United States
4945
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ADAMTSL2. Complete sequencing

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

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
11722
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
606355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Micromelic Dysplasia NGS Panel

Fulgent Genetics
United States
14024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Geleophysic Dysplasia: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
13
  • C Sequence analysis of the entire coding region

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
2308
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
1246
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias Core Panel

Blueprint Genetics
Finland
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (NGS panel of 109 genes)

CGC Genetics
Portugal
117108
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (NGS panel of 109 genes)

CGC Genetics
Portugal
117108
  • C Sequence analysis of the entire coding region

Geleophysic Dysplasia , Sequencing ADAMTSL2 Gene

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

Lysosomal Disorders and Mucopolysaccharidosis Panel

Blueprint Genetics
Finland
15102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Micromelic Dysplasia Panel

Blueprint Genetics
Finland
627
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome

Amsterdam UMC Genome Diagnostics VU University medical center
Netherlands
57
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel

CeGaT GmbH
Germany
1819
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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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