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Results: 1 to 20 of 136

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

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)

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

PGmax™ - Primary Immunodeficiency and Malignancy Predisposition Panel

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

PGxome Prenatal

PreventionGenetics, part of Exact Sciences
United States
11
  • C Sequence analysis of the entire coding region

PGxome Rapid

PreventionGenetics, part of Exact Sciences
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

AustimNext®

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

EpiRapid®

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

NeurodevelopmentNext™

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

Exome-Wide CNV Analysis

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis

Whole Exome Sequencing

UW Cytogenetic Services Wisconsin State Laboratory of Hygiene
United States
11
  • C Sequence analysis of the entire coding region

Total BluePrint Panel

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

qSeqEasy-CFTR

Quantitative Genomic Medicine Laboratories, SL
Spain
21
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 136

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.