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Results: 1 to 20 of 33

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoScreen

Centogene US, LLC - The Rare Disease Company
United States
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene US, LLC - The Rare Disease Company
United States
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diabetes and Obesity Panel

Centogene US, LLC - The Rare Disease Company
United States
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RAB23 - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RAB23 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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 Monogenic Obesity Panel

Invitae
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Limb and Digital Malformations Panel

Invitae
United States
367178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Polydactyly and Syndactyly Panel

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

Carpenter syndrome, 201000, Autosomal recessive; CRPT1 (Carpenter syndrome) (RAB23 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Carpenter syndrome, 201000, Autosomal recessive; CRPT1 (Carpenter syndrome) (RAB23 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Syndactyly Panel

PreventionGenetics
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 Hospital
United States
11045
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen without X-linked Disorders

Invitae
United States
228279
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
247301
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.