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Results: 21 to 40 of 295

Tests names and labsConditionsGenes, analytes, and microbesMethods

Pancreatitis Panel

Centogene AG - the Rare Disease Company
Germany
2729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary Panel

Centogene AG - the Rare Disease Company
Germany
99101
  • 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 Connective Tissue Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
19592
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Invitae Cholestasis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
210134
  • D Deletion/duplication analysis

Invitae Congenital Diarrhea Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
12183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Invitae Neonatal Respiratory Distress Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
163111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Panel

PreventionGenetics, part of Exact Sciences
United States
13069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Hypertrypsinemia, neonatal (Cystic fibrosis) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Hypertrypsinemia, neonatal (Cystic fibrosis) (CFTR 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

Hypertrypsinemia, neonatal (Cystic fibrosis) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Hypertrypsinemia, neonatal (Cystic fibrosis) (CFTR 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

Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis, 219700, Autosomal recessive (Cystic fibrosis) (FCGR2A 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

Sweat chloride elevation without CF (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Sweat chloride elevation without CF (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Sweat chloride elevation without CF (CFTR 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

Results: 21 to 40 of 295

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.