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Results: 1 to 20 of 29

Tests names and labsConditionsGenes and analytesMethods

WNT5A deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

WNT5A sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Tempus xO assay

Tempus Labs, Inc.
United States
11714
  • R RNA analysis
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Robinow syndrome

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

Robinow syndrome Comprehensive panel

Connective Tissue Gene Tests
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Robinow syndrome NGS panel

Connective Tissue Gene Tests
United States
44
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cornelia de Lange PLUS Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
1222
  • D Deletion/duplication analysis

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection

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

WNT5A. Complete sequencing

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

Disproportionate Short Stature: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
19876
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
1186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias Core Panel

Blueprint Genetics
Finland
1107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ROBINOW SYNDROME, AUTOSOMAL DOMINANT

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

Robinow Syndrome, Sequencing WNT5A Gene

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

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Micromelic Dysplasia Panel

Blueprint Genetics
Finland
624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromal Diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
14342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental Retardation and Dysmorphology - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
15343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel

CeGaT GmbH
Germany
1819
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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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