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Results: 1 to 20 of 142

Tests names and labsConditionsGenes, analytes, and microbesMethods

Exome Sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

CentoXome (Whole Exome Sequencing)

Centogene US, LLC - The Rare Disease Company
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

CentoGenome (Whole Genome Sequencing)

Centogene US, LLC - The Rare Disease Company
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoArray

Centogene US, LLC - The Rare Disease Company
United States
12
  • D Deletion/duplication analysis
  • U Uniparental disomy study (UPD)

CentoArray

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • U Uniparental disomy study (UPD)

CentoGenome (Whole Genome Sequencing)

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoXome (Whole Exome Sequencing)

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

NextStepDx PLUS

Bionano Laboratories
United States
51
  • C Sequence analysis of the entire coding region

CentoXome MOx (Whole Exome Sequencing)

Centogene US, LLC - The Rare Disease Company
United States
1320
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

test

Ambry Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Percepta Genomic Sequencing Classifier

Veracyte, Inc.
United States
11
  • C Sequence analysis of the entire coding region

Signatera

Natera, Inc.
United States
11
  • E Sequence analysis of select exons

Primary Immunodeficiency and Lymphoid Malignancy Predisposition Panel

PreventionGenetics
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Signal Whole exome sequencing / Whole transcriptome sequencing (WES/WTS)

Sema4
United States
31
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PGxome Prenatal

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

PGxome Rapid

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

NephrolithiasisNext™

Ambry Genetics
United States
131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext®-Neuro

Ambry Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpilepsyNext-Expanded™

Ambry Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpilepsyNext®

Ambry Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 142

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.