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Results: 1 to 20 of 62 (representing 33 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Galactosemia

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

Disorders of Sex Development and Infertility Sequencing Panel

PreventionGenetics
United States
8696
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Female Infertility Sequencing Panel

PreventionGenetics
United States
7683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Hypoglycemia Sequencing Panel

PreventionGenetics
United States
2322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Galactosemia Type I via the GALT Gene, 5.5 kb Common Deletion

PreventionGenetics
United States
11
  • T Targeted variant analysis

GALT. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

GALT Prenatal Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Sequence analysis of select exons

GALT Sequence and Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GALT Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • C Sequence analysis of the entire coding region

GALT Familial Mutation/Variant Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Sequence analysis of select exons

GALT Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • D Deletion/duplication analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

Galactosemia Type I via the GALT Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polyols - Urine

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
57
  • A Analyte

Galactosemia: Galactitol Quantitative, Urine

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
31
  • A Analyte

Galactosemia, Classic: Panel (GALT Enzyme Activity & Galactose-1-Phosphate Quantitative), Red Blood Cells

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
21
  • E Enzyme assay

Galactosemia: Galactose-1-Phosphate, Quantitative, Red Blood Cells

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
51
  • A Analyte

Galactosemia, Classic (Galactose-1-Phosphate Uridyltransferase Deficiency): GALT Enzyme Activity, Red Blood Cells

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
21
  • E Enzyme assay

Results: 1 to 20 of 62

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.

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