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Results: 1 to 20 of 53

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

SLC2A2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • 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 Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

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

Bone Fragility and Fracture Panel

PreventionGenetics, Part of Exact Sciences
United States
8774
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypoglycemia Panel - Expanded

PreventionGenetics, Part of Exact Sciences
United States
126111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fanconi-Bickel syndrome, 227810, Autosomal recessive; FBS (Glycogen storage disease due to GLUT2 deficiency) (SLC2A2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Fanconi-Bickel syndrome, 227810, Autosomal recessive; FBS (Glycogen storage disease due to GLUT2 deficiency) (SLC2A2 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

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, Part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Progressive Renal Disease Panel

Invitae
United States
310195
  • D Deletion/duplication analysis

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta Panel

PreventionGenetics, Part of Exact Sciences
United States
3326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Glycogen Storage Disease Panel

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

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Panel

PreventionGenetics, Part of Exact Sciences
United States
4637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Panel

PreventionGenetics, Part of Exact Sciences
United States
3727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Hypoglycemia Panel

PreventionGenetics, Part of Exact Sciences
United States
3838
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication analysis

Invitae Galactosemia Panel

Invitae
United States
97
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Results: 1 to 20 of 53

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.