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Results: 21 to 40 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

CONGENITAL DIARRHEA SYNDROME PANEL

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

Mono and Disaccharide Congenital Disorders Panel. 9-gene NGS panel.

Genologica Medica
Spain
149
  • C Sequence analysis of the entire coding region

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

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

Glucose-Galactose Malabsorption (SLC5A1 Single Gene Test)

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Mono- and Disaccharide Disorders Panel

Blueprint Genetics
Finland
89
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GLUCOSE-GALACTOSE MALABSORPTION

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Rare Carbohydrate Disorders Panel

Invitae
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Diarrhea Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
3632
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Diarrhea Panel

Blueprint Genetics
Finland
627
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glucose-Galactose Malabsorption (SLC5A1) Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • T Targeted variant analysis

Glucose-galactose malabsorption

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

SLC5A1

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

Results: 21 to 40 of 43

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.