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Results: 1 to 20 of 28 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

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

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

Skeletal Disorders and Joint Problems Sequencing Panel

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

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

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

SHOX Seq + Del/Dup

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

Langer mesomelic dysplasia

Labor Dr. Wisplinghoff
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SHOX - Gene Sequencing & Del/Dup analysis

Genome Diagnostics VU University Medical Center
Netherlands
31
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • T Targeted variant analysis

SHOX deletion FISH

Cytogenetics and Genomics Laboratory University of Washington
United States
31
  • M FISH-metaphase

SHOX deficiency

bio.logis Center for Human Genetics
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SHOX Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SHOX Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • D Deletion/duplication analysis

SHOX

Division Human Genetics Medical University Innsbruck
Austria
31
  • S Mutation scanning of the entire coding region

qChip

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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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