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Results: 1 to 20 of 32 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

Glycosylation disorder type 1C

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

Glycosylation disorder type 1C

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

ALG6. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

MPI. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

PMM2. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • 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 Ic (CDG Ic) via the ALG6 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 1

PreventionGenetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CONGENITAL DISORDERS OF GLYCOSYLATION

Laboratorio de Genetica Clinica SL
Spain
55
  • C Sequence analysis of the entire coding region

Congenital Disorder of Glycosylation Type IC , Sequencing ALG6 Gene

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

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 N-linked glycosylation (CDG)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2222
  • E Sequence analysis of select exons

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

CarrierMap

Recombine
United States
302301
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital disorder of glycosylation type Ic

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Single gene testing ALG6

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

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
174204
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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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