GTR Home > Tests > Search results - Saethre-Chotzen syndrome

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GTR test search results for C0175699[DISCUI]

C Clinical test, R Research test

Showing 1 to 20 of 25 tests for 1 condition in 14 labs

CRapid microarray (CGH and SNP)

Lab: Allele Diagnostics Spokane, Washington, United States
Test targets
Methods
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity
Total conditions (247)
Total targets (231)

CSaethre-Chotzen syndrome

Lab: Centogene AG - the Rare Disease Company Rostock, Mecklenburg-Vorpommern, Germany
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CSaethre-Chotzen syndrome

Lab: Centogene AG - the Rare Disease Company Rostock, Mecklenburg-Vorpommern, Germany
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CFacial Dysostosis Related Disorders NextGen Sequencing (NGS) Panel

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis
Total conditions (33)
Total targets (19)

CCraniosynostosis and Related Disorders NextGen Sequencing (NGS) Panel

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis
Total conditions (19)
Total targets (5)

CTWIST. MLPA testing

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

CFGFR2-Related Disorders via the FGFR2 Gene

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis
Total conditions (8)

CSaethre-Chotzen syndrome (deletion/duplication analysis of TWIST1 gene)

Lab: CGC Genetics Porto, Porto, Portugal
Test targets
Methods
  • D Deletion/duplication analysis

CqChip

Lab: Quantitative Genomic Medicine Laboratories, SL Esplugues del Llobregat, Catalonia, Spain
Total conditions (183)
Total targets (162)

CTWIST1

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CFGFR2

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (11)

CSkeletal Dysplasias NGS panel

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (371)
Total targets (161)

CFGFR-Related Craniosynostosis NGS Panel

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (25)

CCraniosynostosis NGS Panel

Lab: Transgenomic New Haven, Connecticut, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (17)

CIntellectual Disability NGS Panel

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (752)
Total targets (392)

CEpilepsy NGS Panel

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (598)
Total targets (343)

CSaethre-Chotzen Syndrome - TWIST Sequence and TWIST and FGFR3 (p.Pro250Arg) Del/Dup Analysis

Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Showing 1 to 20 of 25 tests for 1 condition in 14 labs

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