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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TRAF3IP1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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

CentoNephro Panel

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

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • 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

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • 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

Invitae Skeletal Disorders Panel

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

Senior-Loken syndrome 9, 616629, Autosomal recessive; SLSN9 (Senior-Loken syndrome) (TRAF3IP1 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

Senior-Loken syndrome 9, 616629, Autosomal recessive; SLSN9 (Senior-Loken syndrome) (TRAF3IP1 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

Invitae Inherited Retinal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephronophthisis and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2929
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephronophthisis and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2929
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephronophthisis and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2929
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Senior-Loken syndrome panel. 8-gene NGS panel.

Genologica Medica
Spain
188
  • C Sequence analysis of the entire coding region

Ciliopathy panel. NGS panel of 99 genes.

Genologica Medica
Spain
15297
  • C Sequence analysis of the entire coding region

Senior-Loken syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
77
  • C Sequence analysis of the entire coding region

Senior-Loken Syndrome

Asper Biogene Asper Biogene LLC
Estonia
199
  • 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.