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Results: 1 to 20 of 42

Tests names and labsConditionsGenes, analytes, and microbesMethods

qChip 1M

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

qChip 60k post-natal

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

qChip 400

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

High-Resolution Rapid Microarray (CGH and SNP)

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

Rapid microarray (CGH and SNP)

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

qChip 60k prenatal

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

SHOX gene, deletions and duplications

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • D Deletion/duplication analysis

SHOX gene, point mutations

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • C Sequence analysis of the entire coding region

SHOX - MLPA

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis

SHOX - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
31
  • C Sequence analysis of the entire coding region

Leri-Weill dyschondrosteosis, 127300, Autosomal dominant; LWD (Léri-Weill dyschondrosteosis) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Leri-Weill dyschondrosteosis, 127300, Autosomal dominant; LWD (Léri-Weill dyschondrosteosis) (SHOX gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qChip 180

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

Leri-Weill dyschondrosteosis Comprehensive Test

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

Leri-Weill dyschondrosteosis Sequencing Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leri-Weill dyschondrosteosis Deletion / Duplication Test

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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

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

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

SHOX Gene Sequencing

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
31
  • C Sequence analysis of the entire coding region

SHOX

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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.