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Results: 1 to 20 of 132

Tests names and labsConditionsGenes, analytes, and microbesMethods

SPINK1

Department of Clinical Genetics Odense University Hospital
Denmark
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

CTRC

Department of Clinical Genetics Odense University Hospital
Denmark
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Hereditary Pancreatitis Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
14
  • C Sequence analysis of the entire coding region

CentoColon

Centogene AG - the Rare Disease Company
Germany
6733
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer

Centogene AG - the Rare Disease Company
Germany
11468
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
156107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PRSS1 - Sanger sequencing

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

PRSS2 - Sanger sequencing

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

CFTR - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SPINK1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pancreatitis Panel

Centogene AG - the Rare Disease Company
Germany
2729
  • 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 Neonatal Respiratory Distress Panel

Invitae
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

Pancreatitis, idiopathic, 167800, Autosomal dominant (Hereditary chronic pancreatitis) (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

Pancreatitis, chronic, susceptibility to, 167800, Autosomal dominant (Hereditary chronic pancreatitis) (CTRC 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

Pancreatitis, hereditary, 167800, Autosomal dominant; PCTT (Hereditary chronic pancreatitis) (SPINK1 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

Pancreatitis, hereditary, 167800, Autosomal dominant (Hereditary chronic pancreatitis) (PRSS1 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

Pancreatitis, chronic, protection against, 167800, Autosomal dominant (Hereditary chronic pancreatitis) (PRSS2 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

Results: 1 to 20 of 132

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.