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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • 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

LDHA - 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
247262
  • 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

Invitae Progressive Renal Disease Panel

Invitae
United States
310195
  • D Deletion/duplication analysis

Invitae Comprehensive Glycogen Storage Disease Panel

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

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
10683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Glycogen Storage Disease and Disorders of Glucose Metabolism Panel

PreventionGenetics, part of Exact Sciences
United States
3333
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glycogen-Storage NGS Panel

Fulgent Genetics
United States
3630
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LDHA Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.