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Results: 1 to 20 of 52

Tests names and labsConditionsGenes, analytes, and microbesMethods

Exostoses, multiple, type 1, 133700, Autosomal dominant (Multiple osteochondromas) (EXT1 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

Exostoses, multiple, type 1, 133700, Autosomal dominant (Multiple osteochondromas) (MLPA)

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

Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
10999
  • X Mutation scanning of select exons

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
155107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EXT1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

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

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

Invitae Supplemental Metabolic Newborn Screening Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
253189
  • 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

Multiple exostoses NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple exostoses Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple exostoses Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pediatric Cancer Panel

PreventionGenetics, part of Exact Sciences
United States
7764
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple exostoses Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple exostoses Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple exostoses NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Disorders of Glycosylation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 52

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.