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Results: 1 to 20 of 29

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

Galactose epimerase deficiency

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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Epimerase Deficiency Galactosemia via the?GALE?Gene

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

GALE. Complete sequencing

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

GALE Sequence Analysis

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

GALE Sequence & Deletion/Duplication Analysis

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

GALE Prenatal Sequence Analysis

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

GALE Familial Mutation/Variant Analysis

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

GALE Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

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

Polyols - Urine

Baylor Miraca Genetics Laboratories
United States
57
  • A Analyte

Galactosemia: Galactitol Quantitative, Urine

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

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

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

GALACTOSEMIA TYPE 3 (GALACTOSE EPIMERASE DEFICIENCY)

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

Galactosemia Type 3, Sequencing GALE Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Metabolic Disorders Newborn Screening Confirmation Panel

Invitae
United States
11790
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Galactosemia Panel

Invitae
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Galactose epimerase deficiency

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

Results: 1 to 20 of 29

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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