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Results: 1 to 20 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

AKT2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Hypoglycemia Panel

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

Invitae Overgrowth Syndromes Panel

Invitae
United States
9653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Monogenic Diabetes Panel

PreventionGenetics, part of Exact Sciences
United States
10154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypercholesterolemia panel

Genetic Services Laboratory University of Chicago
United States
1510
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dyslipidemia panel

Genetic Services Laboratory University of Chicago
United States
1729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypoglycemia Panel - Expanded

PreventionGenetics, part of Exact Sciences
United States
131115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900, Autosomal dominant; HIHGHH (Hypoinsulinemic hypoglycemia and body hemihypertrophy) (AKT2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Generalized, Partial and Atypical Lipodystrophy Panel

PreventionGenetics, part of Exact Sciences
United States
5729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Partial Lipodystrophy (FPLD) Panel

PreventionGenetics, part of Exact Sciences
United States
2916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
145112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lipodystrophy Panel

Genetic Services Laboratory University of Chicago
United States
1720
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperinsulinism Panel

Clinical Genomics Laboratory Washington University in St. Louis
United States
418
  • C Sequence analysis of the entire coding region

Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel.

Genologica Medica
Spain
13384
  • C Sequence analysis of the entire coding region

Congenital and familial lipodystrophy panel. NGS panel of 11 genes.

Genologica Medica
Spain
2911
  • C Sequence analysis of the entire coding region

Hypoinsulinemic hypoglycemia with hemihypertrophy

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 30

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.