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Results: 1 to 20 of 20

Tests names and labsConditionsGenes and analytesMethods

Glycosylation disorder type 1F

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
United States
3027
  • E Sequence analysis of select exons

MitoMet®Plus aCGH Analysis

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

Congenital Disorders of Glycosylation, Type If (CDG If) via the MPDU1 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: Deletion/Duplication Panel

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

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 If (sequence analysis of MPDU1 gene)

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

MPDU1

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

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
297248
  • L Linkage analysis
  • 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

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 If: MPDU1 Gene Sequencing

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

Congenital Disorder of Glycosylation If: MPDU1 Gene Deletion/Duplication

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

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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