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Results: 1 to 20 of 27

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

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication analysis

Invitae Congenital Diarrhea Panel

Invitae
United States
12183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diarrhea 7, 615863, Autosomal recessive; DIAR7 (Congenital chronic diarrhea with protein-losing enteropathy) (DGAT1 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 7, 615863, Autosomal recessive; DIAR7 (Congenital chronic diarrhea with protein-losing enteropathy) (DGAT1 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

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

 Congenital diarrhea type 7 (sequence analysis of DGAT1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Treatable Disorders Panel

Mendelics
Brazil
1369
  • C Sequence analysis of the entire coding region

CONGENITAL DIARRHEA SYNDROME PANEL

Laboratorio de Genetica Clinica SL
Spain
165
  • E Sequence analysis of select exons

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Digestive Disease panel

Genetic Services Laboratory University of Chicago
United States
168
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • 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

Results: 1 to 20 of 27

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.