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Results: 1 to 20 of 20 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Glycosylation disorder type 1H

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

Congenital Disorders of Glycosylation Panel

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

MitoMet®Plus aCGH Analysis

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

Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via ALG8 Gene

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

Congenital Disorders of Glycosylation Sanger Sequencing Panel 2

PreventionGenetics
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Disorders of Glycosylation Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
5649
  • 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

Single gene testing ALG8

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Congenital disorders of glycosylation (NGS panel for 39 genes)

CGC Genetics
Portugal
1939
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation (CDG) Panel

CeGaT GmbH
Germany
2034
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation (CDG) Panel

CeGaT GmbH
Germany
2034
  • C Sequence analysis of the entire coding region

Glycosylation disorder type Ih (sequence analysis of ALG8 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

ALG8

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

Congenital Disorders of Glycosylation: Gene Sequencing and Deletion/Duplication Panel

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

Epilepsy NGS Panel

Fulgent Genetics
United States
597343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation NGS Panel

Fulgent Genetics
United States
4438
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorder of Glycosylation Ih: ALG8 Gene Deletion/Duplication

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • D Deletion/duplication analysis

Congenital Disorder of Glycosylation Ih: ALG8 Full Gene Sequencing

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • C Sequence analysis of the entire coding region

epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
630431
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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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