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Results: 1 to 20 of 21

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

Phosphoribosylpyrophosphate synthetase superactivity

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

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

PRPS1-Related Disorders

PreventionGenetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PRPS1. Complete sequencing

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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
251184
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Neuropathies: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
12790
  • D Deletion/duplication analysis

Hearing Loss: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15991
  • D Deletion/duplication analysis

Phosphoribosylpyrophosphate Synthetase Superactivity: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Deletion/duplication analysis of PRPS1 gene

CGC Genetics
Portugal
41
  • D Deletion/duplication analysis

Deletion/duplication analysis of PRPS1 gene

CGC Genetics
Portugal
41
  • D Deletion/duplication analysis

Single gene testing PRPS1

CeGaT GmbH
Germany
41
  • C Sequence analysis of the entire coding region

PRPS1

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot Marie Tooth Disease Extended NGS Panel

Fulgent Genetics
United States
11549
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Neuropathies: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
12790
  • C Sequence analysis of the entire coding region

Hearing Loss: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
197131
  • C Sequence analysis of the entire coding region

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
13891
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XLID NGS Panel

Fulgent Genetics
United States
187107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.

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