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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Robinow syndrome, autosomal dominant 2, 616331, Autosomal dominant; DRS2 (Autosomal dominant Robinow syndrome) (DVL1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Robinow syndrome, autosomal dominant 2, 616331, Autosomal dominant; DRS2 (Autosomal dominant Robinow syndrome) (DVL1 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

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
145112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Robinow syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
46
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Limb Malformation Panel

PreventionGenetics, part of Exact Sciences
United States
10399
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Robinow syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
46
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Robinow syndrome NGS panel

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

DVL1

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

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

Robinow syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
44
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia

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

Results: 1 to 14 of 14

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.