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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

WDR4 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4838
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Galloway-Mowat Syndrome (GAMOS) Panel

PreventionGenetics, part of Exact Sciences
United States
118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Panel

PreventionGenetics, part of Exact Sciences
United States
5972
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Galloway-Mowat syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
88
  • C Sequence analysis of the entire coding region

Results: 1 to 8 of 8

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.