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Results: 1 to 20 of 5824

Tests names and labsConditionsGenes, analytes, and microbesMethods

Mitochondrial genome panel

Centogene AG - the Rare Disease Company
Germany
137
  • 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)

Friedreich Ataxia (FRDA) via the FXN GAA Repeat Expansion

PreventionGenetics, part of Exact Sciences
United States
11
  • T Targeted variant analysis

Low Levels of Free Carnitine (C0) via the SLC22A5 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Elevated Levels of C6, C8 and C10 Acylcarnitine via the ACADM Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Elevated Levels of C14 and C14:1 Acylcarnitine via the ACADVL Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Elevated Levels of C0/(C16+C18) Acylcarnitine via the CPT1A Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Elevated C5-DC Acylcarnitine via the GCDH Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Alzheimer's Disease, Familial, Plus APOE Panel

PreventionGenetics, part of Exact Sciences
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

YRDC

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

Invitae Surgical Risk Screen

Invitae
United States
248
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC36A2

Invitae
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Frontotemporal Dementia with C9orf72 Panel

Invitae
United States
3014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FOXC2

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

Invitae FMR1-Fragile X Syndrome and Related Disorders Repeat Expansion Test

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

Invitae FMR1-Carrier

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

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae eMERGE Panel

Invitae
United States
5916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 5824

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.