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Results: 1 to 20 of 33

Tests names and labsConditionsGenes, analytes, and microbesMethods

Early Onset IBD Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
163110
  • C Sequence analysis of the entire coding region

SLC26A3 - NGS including CNV analysis

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

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • 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 Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Congenital Diarrhea Panel

Invitae
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

Diarrhea 1, secretory chloride, congenital, 214700, Autosomal recessive; DIAR1 (Congenital chloride diarrhea) (SLC26A3 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

Diarrhea 1, secretory chloride, congenital, 214700, Autosomal recessive; DIAR1 (Congenital chloride diarrhea) (Prenatal) (MLPA)

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

Diarrhea 1, secretory chloride, congenital, 214700, Autosomal recessive; DIAR1 (Congenital chloride diarrhea) (MLPA)

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

Diarrhea 1, secretory chloride, congenital, 214700, Autosomal recessive; DIAR1 (Congenital chloride diarrhea) (SLC26A3 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 Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Cholestasis panel. NGS panel of 46 genes.

Genologica Medica
Spain
8846
  • C Sequence analysis of the entire coding region

Cholestasis NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10473
  • C Sequence analysis of the entire coding region

Congenital Diarrhea panel

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
2020
  • C Sequence analysis of the entire coding region

Diarrhea, congenital: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1010
  • C Sequence analysis of the entire coding region

Congenital Diarrhea NGS Panel

Fulgent Genetics
United States
119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.