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Results: 1 to 20 of 61

Tests names and labsConditionsGenes, analytes, and microbesMethods

FLI1 Gene Platelet dense granule secretion defect, excessive bleeding NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

PlateletGenex Thrombocytopenia Panel (26 genes) (2 Day STAT TAT)

Machaon Diagnostics
United States
2226
  • C Sequence analysis of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

FLI1 - NGS including CNV analysis

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

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Soft Tissue Sarcoma Tumor Analysis, Fusion Detection by RT-PCR

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
112
  • R RNA analysis

MayoComplete Solid Tumor Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1476
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region

JAX SOMASEQ

The Jackson Laboratory for Genomic Medicine
United States
1517
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

OmniSeq INSIGHT

OmniSeq, Inc.
United States
1525
  • R RNA analysis
  • C Sequence analysis of the entire coding region

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
250155
  • C Sequence analysis of the entire coding region

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

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

Platelet Function Disorder Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
4041
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Thrombocytopenia Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
4042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thrombocytopenia Comprehensive Panel

HNL Genomics Connective Tissue Gene Tests
United States
2528
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 61

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.