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Results: 1 to 20 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoMetabolic MOx

Centogene US, LLC - The Rare Disease Company
United States
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ENO3 - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoIEM Panel

Centogene US, LLC - The Rare Disease Company
United States
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diabetes and Obesity Panel

Centogene US, LLC - The Rare Disease Company
United States
248262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Panel

Centogene US, LLC - The Rare Disease Company
United States
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoNeuro Panel

Centogene US, LLC - The Rare Disease Company
United States
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ENO3 - 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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
248262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Rhabdomyolysis and Metabolic Myopathy Panel

Invitae
United States
202128
  • D Deletion/duplication analysis

Invitae Hypoglycemia Panel

Invitae
United States
173119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glycogen storage disease XIII, 612932, Autosomal recessive; GSD13 (Glycogen storage disease due to muscle beta-enolase deficiency) (ENO3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Glycogen storage disease XIII, 612932, Autosomal recessive; GSD13 (Glycogen storage disease due to muscle beta-enolase deficiency) (ENO3 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

ENO1 - Enolase deficiency

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

ENO3 - Glycogen storage disease type XIII

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

ENO2 - Enolase deficiency

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Glycogen Storage Disease Panel

Invitae
United States
3728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 56

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.