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Results: 1 to 20 of 82

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

FoundationOne®

Foundation Medicine, Inc.
United States
1315
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Ashkenazi panel (advanced)

Centogene AG - the Rare Disease Company
Germany
115
  • T Targeted variant analysis

Ashkenazi panel (basic)

Centogene AG - the Rare Disease Company
Germany
26
  • T Targeted variant analysis

Fanconi anemia type C

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

Fanconi Anemia (Type C), DNA Analysis

Molecular Diagnostic Laboratory LabCorp
United States
11
  • T Targeted variant analysis

Fanconi Anemia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1918
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2457
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

FANCC. MLPA testing

Instituto de Medicina Genomica
Spain
41
  • D Deletion/duplication analysis

FANCC. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

Ashkenazic Genetic Disease Screen (without Cystic Fibrosis)

Baylor Miraca Genetics Laboratories
United States
115
  • T Targeted variant analysis

Ashkenazic Genetic Disease Screen (with Cystic Fibrosis)

Baylor Miraca Genetics Laboratories
United States
125
  • T Targeted variant analysis

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fanconi Anemia via the FANCC Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fanconi Anemia Sequencing Panel

PreventionGenetics
United States
1616
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fanconi Anemia Type C

Counsyl
United States
11
  • C Sequence analysis of the entire coding region

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
4839
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 82

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.