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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HOXD13-Related Disorders via the HOXD13 Gene

PreventionGenetics, part of Exact Sciences
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

VACTERL Association and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Limb and Digital Malformations Panel

Invitae
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 E, 113300, Autosomal dominant; BDE1 (Brachydactyly type E) (HOXD13 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

Brachydactyly, type E, 113300, Autosomal dominant; BDE1 (Brachydactyly type E) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

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

HOXD13

Institute for Human Genetics University Medical Center Freiburg
Germany
51
  • C Sequence analysis of the entire coding region

Brachydactyly / syndactyly panel. NGS panel of 20 genes.

Genologica Medica
Spain
5520
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

BRACHYDACTYLY TYPE D & TYPE E

Laboratorio de Genetica Clinica SL
Spain
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Single gene testing HOXD13

CeGaT GmbH
Germany
51
  • C Sequence analysis of the entire coding region

Brachydactyly type E

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Brachydactyly type E

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 23

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.