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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Limb and Digital Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly Panel

PreventionGenetics, part of Exact Sciences
United States
231139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Brachydactyly, type A1, 112500, Autosomal dominant; BDA1 (Brachydactyly type A1) (IHH 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

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CraniofacialZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
11045
  • 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

Brachydactyly type A1 (sequence analysis of IHH gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Brachydactyly: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
108
  • 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

Micromelic Dysplasia NGS Panel

Fulgent Genetics
United States
14024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS Panel

Fulgent Genetics
United States
33961
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BRACHYDACTYLY TYPE A1

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Craniosynostosis

Asper Biogene Asper Biogene LLC
Estonia
3824
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel

CeGaT GmbH
Germany
1920
  • C Sequence analysis of the entire coding region

IHH Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.