U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoNeuro Panel

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

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Neurodevelopmental Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
404241
  • D Deletion/duplication analysis

Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4838
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Invitae Overgrowth Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myeloproliferative / myelodysplastic syndrome [detection of somatic mutations: JAK2 (V617F and exon 12), CALR (exon 9) , MPL (exon 10), ASXL1 (exon 13), CBL (exons 8 and 9), CSF3R (exons 14 – 17), DNMT3A (whole coding region), ETNK1 (exon 3), EZH2 (whole

CGC Genetics Unilabs
Portugal
315
  • E Sequence analysis of select exons

Results: 1 to 9 of 9

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.