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Results: 1 to 17 of 17 (representing 12 labs)

Tests names and labsConditionsGenes and analytesMethods

Geleophysic dysplasia 1 - Sanger / Del Dup Comprehensive

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

Geleophysic dysplasia 1 (GPHYSD1) - Deletion/Duplication

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

Geleophysic dysplasia 1 (GPHYSD1) - Sanger Sequencing

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

Geleophysic dysplasia

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

ADAMTSL2. Complete sequencing

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

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders and Mucopolysaccharidosis Panel

Blueprint Genetics
Finland
1599
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14354
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Micromelic Dysplasia Panel

Blueprint Genetics
Finland
624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

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

Geleophysic dysplasia 1

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

Lysosomal Storage Disease Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
6775
  • C Sequence analysis of the entire coding region

ADAMTSL2

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

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
192106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Geleophysic Dysplasia 1 (sequence analysis of ADAMTSL2 gene)

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

Connective Tissue

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
4342
  • E Sequence analysis of select exons

Results: 1 to 17 of 17

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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