U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

See more countries

Results: 21 to 40 of 44

Tests names and labsConditionsGenes, analytes, and microbesMethods

SHOX MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • D Deletion/duplication analysis

FISH analysis of SHOX gene

CGC Genetics Unilabs
Portugal
11
  • F Fluorescence in situ hybridization (FISH)

Central skeletal dysplasias panel. NGS panel of 111 genes.

Genologica Medica
Spain
258111
  • C Sequence analysis of the entire coding region

Micromelic dysplasia panel. NGS panel of 27 genes.

Genologica Medica
Spain
8327
  • C Sequence analysis of the entire coding region

SHOX Deletion

Duzen Laboratories Duzen BBAGUAS
Turkey
31
  • M FISH-metaphase

Leri-Weill dyschondrosteosis

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Short Stature Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
8260
  • C Sequence analysis of the entire coding region

LERI-WEILL SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

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

SHOX Del/Dup

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

SHOX Seq + Del/Dup

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

Leri-Weill dyschondrosteosis (LWD)

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

SHOX - Gene Sequencing & Del/Dup analysis

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

SHOX deletion FISH

Cytogenetics Laboratory University Of Washington
United States
31
  • M FISH-metaphase

Leri-Weill dyschondrosteosis

Bioarray
Spain
11
  • D Deletion/duplication analysis

SHOX Sequencing

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

SHOX

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

Skeletal Dysplasia

Asper Biogene Asper Biogene LLC
Estonia
16674
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 44

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.