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Results: 1 to 20 of 54

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Cancer Screening - Nervous System & Endocrine Cancer Panel (44 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
5244
  • X Mutation scanning of select exons

Hereditary Cancer Screening - Breast & Gynecological Cancer Panel (33 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
3733
  • X Mutation scanning of select exons

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

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

Weaver syndrome testing (EZH2)

Genetic Services Laboratory University of Chicago
United States
11
  • 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

Myeloid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
7434
  • C Sequence analysis of the entire coding region

EZH2 - 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

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

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Invitae Overgrowth Syndromes Panel

Invitae
United States
9653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Weaver syndrome, 277590, Autosomal dominant; WVS (Weaver syndrome) (EZH2 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

Weaver syndrome, 277590, Autosomal dominant; WVS (Weaver syndrome) (EZH2 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

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, Part of Exact Sciences
United States
15088
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Sotos syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
54
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Sotos syndrome and related disorders Deletion/Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sotos syndrome and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Weaver and Cohen-Gibson syndrome 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

Overgrowth syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Weaver and Cohen-Gibson syndrome Deletion / Duplication panel

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

Results: 1 to 20 of 54

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.