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Results: 1 to 20 of 44

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Metabolic myopathies panel

Centogene AG - the Rare Disease Company
Germany
125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Phosphoglycerate kinase 1 deficiency

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

X-Linked Intellectual Disability NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Phosphoglycerate Kinase Deficiency via the PGK1 Gene

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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3056447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

METABOLIC MYOPATHIES

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2325
  • C Sequence analysis of the entire coding region

GLYCOGEN STORAGE DISEASE

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2424
  • C Sequence analysis of the entire coding region

Rhabdomyolysis

Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
United Kingdom
130
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease- Muscle

Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
United Kingdom
117
  • C Sequence analysis of the entire coding region

Red Blood Cell Enzymopathies Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
1414
  • D Deletion/duplication analysis

Hemolytic Anemia Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
3232
  • D Deletion/duplication analysis

Mental retardation, X-linked (NGS panel for 89 genes)

CGC Genetics
Portugal
4989
  • C Sequence analysis of the entire coding region

Single gene testing PGK1

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

Phosphoglycerate kinase 1 deficiency (sequence analysis of PGK1 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

RBC Enzymopathies (NGS panel of 14 genes)

CGC Genetics
Portugal
114
  • C Sequence analysis of the entire coding region

Metabolic Myopathies Panel

CeGaT GmbH
Germany
2641
  • C Sequence analysis of the entire coding region

Metabolic Epilepsy Panel

CeGaT GmbH
Germany
337
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 44

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.