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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

EPRS1 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • 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

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Optic Atrophy and Neuropathy Panel

PreventionGenetics, part of Exact Sciences
United States
9870
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neurodegenerative panel _v.2.0

CGC Genetics Unilabs
Portugal
15207
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Xpanded Adult Movement Disorders Panel

GeneDx
United States
5473
  • C Sequence analysis of the entire coding region

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leukodystrophy, hypomyelinating: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1818
  • C Sequence analysis of the entire coding region

Neonatal Epilepsy NGS Panel

Fulgent Genetics
United States
509277
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EPRS Single Gene

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

Results: 1 to 15 of 15

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.