Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 62

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Dyskeratosis congenita

BLOODGENETICS
Spain
1214
  • C Sequence analysis of the entire coding region

Hereditary Melanoma Panel

Genetic Services Laboratory University of Chicago
United States
916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hypopigmentation Panel

Invitae
United States
8346
  • D Deletion/duplication analysis

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
244149
  • C Sequence analysis of the entire coding region

Dyskeratosis congenita NGS panel

Connective Tissue Gene Tests
United States
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dyskeratosis congenita Deletion / Duplication panel

Connective Tissue Gene Tests
United States
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dyskeratosis congenita Comprehensive panel

Connective Tissue Gene Tests
United States
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

PreventionGenetics
United States
230140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA)

Genomic Testing Cooperative, LCA
United States
1434
  • R RNA analysis
  • C Sequence analysis of the entire coding region

GTC-Solid Tumor Profile

Genomic Testing Cooperative, LCA
United States
1434
  • C Sequence analysis of the entire coding region

Dyskeratosis congenita, autosomal dominant 6, 616553, Autosomal recessive, Autosomal dominant; DKCA6 (Hoyeraal-Hreidarsson syndrome) (ACD gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

Dyskeratosis congenita, autosomal dominant 6, 616553, Autosomal recessive, Autosomal dominant; DKCA6 (Hoyeraal-Hreidarsson syndrome) (ACD gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

TeloZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
2516
  • C Sequence analysis of the entire coding region

Familial Melanoma panel

Genome Diagnostics Lab University Health Network
Canada
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dyskeratosis congenita Comprehensive panel

Connective Tissue Gene Tests
United States
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dyskeratosis congenita Deletion / Duplication panel

Connective Tissue Gene Tests
United States
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dyskeratosis congenita NGS panel

Connective Tissue Gene Tests
United States
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Myeloid Malignancy Panel

Genetic Services Laboratory University of Chicago
United States
3785
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Invitae
United States
173127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 62

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.

Support Center