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Results: 1 to 19 of 19

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Glycosylation disorder type 2G

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

Glycosylation disorder type 2G

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

Glycosylation disorder type 2G

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

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection

PreventionGenetics
United States
327258
  • 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
844637
  • D Deletion/duplication analysis

Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes

Reference Laboratory Genetics
Spain
3030
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation: Deletion/Duplication Panel

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

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 (NGS panel for 39 genes)

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

Glycosylation disorder type IIg (sequence analysis of COG1 gene)

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

COG1

Fulgent Genetics
United States
11
  • D Deletion/duplication 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
596343
  • 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 IIg: COG1 Gene Deletion/Duplication

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

Congenital Disorder of Glycosylation IIg: COG1 Gene Sequencing

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

Results: 1 to 19 of 19

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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