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Results: 1 to 20 of 30

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

j-FamilyReady Sephardic-Mizrahi Carrier Screen (52 genes)

EVOLVEGENE EvolveGene
United States
9752
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

j-FamilyReady Ashkenazi + Sephardic-Mizrahi Carrier Screen (95 genes)

EVOLVEGENE EvolveGene
United States
16595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
326204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
327204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Disorders of Glycosylation Panel

Baylor Miraca Genetics Laboratories
United States
3027
  • E Sequence analysis of select exons

MitoMet®Plus aCGH Analysis

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

Sialuria via the GNE Gene, Exon 5

PreventionGenetics
United States
11
  • -- Deletion/duplication analysis
  • -- Sequence analysis of select exons
  • -- Targeted variant analysis

Sialuria: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes

Reference Laboratory Genetics
Spain
10882
  • C Sequence analysis of the entire coding region

Expanded Neuromuscular Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15277
  • D Deletion/duplication analysis

Congenital Disorders of Glycosylation: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
8465
  • D Deletion/duplication analysis

Metabolic Epilepsy Panel

Blueprint Genetics
Finland
831
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3030447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital disorder of multiple glycosylation (CDG)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3531
  • C Sequence analysis of the entire coding region

GNE

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Hereditary Myopathy NGS Panel

Fulgent Genetics
United States
4514
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Expanded Neuromuscular Disorders: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15378
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
8566
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 30

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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