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Results: 1 to 20 of 62 (representing 30 labs)

Tests names and labsConditionsGenes and analytesMethods

Short stature, idiopathic, X-linked - Sanger / Del Dup Comprehensive

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

Leri-Weill dyschondrosteosis - Sanger / Del Dup Comprehensive

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

Langer mesomelic dysplasia - Sanger / Del Dup Comprehensive

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

Short stature, idiopathic, X-linked (ISS) - Deletion/Duplication

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

Leri-Weill dyschondrosteosis (LWD) - Deletion/Duplication

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

Langer mesomelic dysplasia (LMD) - Deletion/Duplication

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

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Short stature

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

SHOX, deletions and duplications

Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile
Chile
11
  • D Deletion/duplication analysis

SHOX, point mutations

Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile
Chile
11
  • C Sequence analysis of the entire coding region

SHOX. Complete sequencing

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

SHOX. Complete sequencing

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

SHOX. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

SHOX. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leri-Weill Dyschondrosteosis , Deletions-Duplications (MLPA) SHOX Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Leri-Weill Dyschondrosteosis , Sequencing SHOX Gene

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

SHOX Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
31
  • C Sequence analysis of the entire coding region

SHOX Del/Dup

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
31
  • D Deletion/duplication analysis

Results: 1 to 20 of 62

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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