GTR Home > Tests > Search results - CN031459[DISCUI]

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GTR test search results for CN031459[DISCUI]

C Clinical test, R Research test

Showing 1 to 20 of 34 tests for 665 conditions in 24 labs

CShort stature Homebox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CSHOX. Complete sequencing

Lab: Instituto de Medicina Genomica Paterna, Comunidad Valenciana, Spain
Test targets
Methods
  • C Sequence analysis of the entire coding region

CSHOX. MLPA testing

Lab: Instituto de Medicina Genomica Paterna, Comunidad Valenciana, Spain
Test targets
Methods
  • D Deletion/duplication analysis

CSkeletal Dysplasia: Sequencing Panel

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (365)
Total targets (163)

CDisproportionate Short Stature: Sequencing Panel

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (200)
Total targets (77)

CProportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel

Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (77)
Total targets (45)

CLeri-Weill Dyschondrosteosis

Lab: MedGene Bratislava, Bratislava, Slovakia
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CShort Stature (sequence analysis of SHOX gene)

Lab: CGC Genetics Porto, Porto, Portugal
Test targets
Methods
  • C Sequence analysis of the entire coding region

CLeri-Weill Dyschondrosteosis

Lab: Praxis fuer Humangenetik Wien Vienna, Wien, Austria
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CLeri-Weill dischondrosteosis: SHOX gene sequence analysis

Test targets
Methods
  • C Sequence analysis of the entire coding region

CChromosome FISH, Metaphase

Lab: Cytogenetics Laboratory ARUP Laboratories, Inc. Salt Lake City, Utah, United States
Total conditions (16)
Total targets (10)

CSHOX-Related Haploinsufficiency Disorders

Lab: CGC Genetics Porto, Porto, Portugal
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CSHOX-Related Haploinsufficiency Disorders

Lab: Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics Schwerin, Mecklenburg-Vorpommern, Germany
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CSHOX-Related Haploinsufficiency Disorders

Lab: MVZ Dortmund Dr. Eberhard and Partner Dortmund, Nordrhein-Westfalen, Germany
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Showing 1 to 20 of 34 tests for 665 conditions in 24 labs

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