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Results: 1 to 20 of 31

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

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

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

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

Feingold Syndrome 1 via the MYCN Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital structural heart disease panel. NGS panel of 62 genes.

Genologica Medica
Spain
11362
  • C Sequence analysis of the entire coding region

Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel.

Genologica Medica
Spain
6348
  • 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

Panel of facial dysostosis and related disorders. NGS panel of 26 genes.

Genologica Medica
Spain
3526
  • C Sequence analysis of the entire coding region

Gastrointestinal atresia panel. NGS panel of 13 genes.

Genologica Medica
Spain
1913
  • C Sequence analysis of the entire coding region

MYCN Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Microcephaly Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
6748
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 31

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.