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Results: 1 to 20 of 100

Tests names and labsConditionsGenes, analytes, and microbesMethods

LeukoStrat CDx FLT3 Mutation Assay

Laboratory for Personalized Molecular Medicine
United States
11
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons

Congenital Neutropenia GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
4630
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EBV/Lymphoproliferation GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
3525
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GATA2 Gene, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FLT3 ITD & TKD Mutation detection by PCR

Laboratory for Personalized Molecular Medicine
United States
11
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons

Onco microarray for MDS/AML

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
273
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
156107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ETV6 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GATA2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KIT - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RUNX1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Multi-Cancer + RNA Panel

Invitae
United States
14363
  • D Deletion/duplication analysis

Invitae Common Hereditary Cancers + RNA Panel

Invitae
United States
11447
  • D Deletion/duplication analysis

Invitae RASopathies and Noonan Spectrum Disorders Panel

Invitae
United States
6028
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel

Invitae
United States
7050
  • D Deletion/duplication analysis

Invitae Familial Essential Thrombocythemia Panel

Invitae
United States
93
  • D Deletion/duplication analysis

Invitae Telomere Biology Disorders Panel

Invitae
United States
2213
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Results: 1 to 20 of 100

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.