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Results: 21 to 40 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

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 MLPA

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

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

Ectopia lentis panel. 14-gene NGS panel.

Genologica Medica
Spain
2614
  • C Sequence analysis of the entire coding region

SHOX Deletion

Duzen Laboratories Duzen BBAGUAS
Turkey
31
  • M FISH-metaphase

Comprehensive Short Stature Genetic Panel

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

SHORT STATURE (IDIOPATHIC SHORT STATURE)

Laboratorio de Genetica Clinica SL
Spain
11
  • D Deletion/duplication analysis
  • 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

Short stature, idiopathic, X-linked, SHOX

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

SHOX deletion FISH

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

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

Growth Hormone Deficiency (GHD) Evaluation

Athena Diagnostics
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SHOX (GHD) DNA Sequencing and Deletion Test

Athena Diagnostics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short stature, idiopathic familial

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SHOX-Related Haploinsufficiency Disorders

MVZ Dr. Eberhard & Partner Dortmund
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 40

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.