Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 38 (representing 21 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

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

Galactokinase deficiency

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

Cataract panel

Centogene AG - the Rare Disease Company
Germany
4845
  • 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

Congenital Cataracts Sequencing Panel

PreventionGenetics
United States
4340
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Galactosemia Type II via the GALK1 Gene

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

GALK1. Complete sequencing

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

GALK1 Sequence Analysis

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

GALK1 Sequence & Deletion/Duplication Analysis

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

GALK1 Prenatal Sequence Analysis

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

GALK1 Familial Mutation/Variant Analysis

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

GALK1 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, Non-Classic (Galactokinase Deficiency): GALK Enzyme Activity, Red Blood Cells

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • E Enzyme assay

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 2, Sequencing GALK Gene

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

Results: 1 to 20 of 38

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.

Support Center