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Results: 1 to 20 of 24 (representing 12 labs)

Tests names and labsConditionsGenes and analytesMethods

Folate malabsorption, hereditary

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

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel

PreventionGenetics
United States
2831
  • 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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Disorders of Folate Metabolism and Transport Sequencing Panel

PreventionGenetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Folate Malabsorption via the SLC46A1 Gene

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Treatable Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
7251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Epilepsy Panel

Blueprint Genetics
Finland
830
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SARM1

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

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Defects of phagocytosis Panel

CeGaT GmbH
Germany
3759
  • C Sequence analysis of the entire coding region

Bone marrow failure syndromes (Metabolism) Panel

CeGaT GmbH
Germany
54
  • C Sequence analysis of the entire coding region

Methylmalonic Acidemia Sequencing NextGen Panel

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
2513
  • C Sequence analysis of the entire coding region

Single gene testing SLC46A1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Dystonia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
7979
  • C Sequence analysis of the entire coding region

SLC46A1

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

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
297248
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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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