Filters

See more specimen types...

Other countries

See more countries

Results: 1 to 20 of 49 (representing 30 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

HFI test

HFI Laboratory at Boston University Boston University
United States
11
  • E Enzyme assay
  • D Deletion/duplication analysis
  • 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

Hereditary Fructose Intolerance via the ALDOB Gene - Sequential Test

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

Hereditary Fructose Intolerance via the ALDOB Gene - Tier 1

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

Hereditary Fructose Intolerance via the ALDOB Gene - Tier 2

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

ALDOB. Complete sequencing

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

ALDOB. Detection of the mutations p.Ala150Pro, p.Ala175Asp and p.Asn335Lys by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel

PreventionGenetics
United States
2928
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

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

ALDOB Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

ALDOB, FBP1,GYS2 & PC Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
64
  • C Sequence analysis of the entire coding region

ALDOB Sequence Analysis

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

ALDOB Deletion/Duplication Analysis

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

ALDOB Comprehensive - Sequence & Deletion/Duplication Analysis

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

Aldolase B (Hereditary Intolerance To Fructose) , Sequencing ALDOB Gene

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

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Fructose Intolerance Test

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

Results: 1 to 20 of 49

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