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Results: 1 to 20 of 34

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 disorde type 2C

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

Glycosylation disorder type 2C

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

Glycosylation disorder type 2C

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

Leukocyte Adhesion Deficiency Type 2 (LADII) via the SLC35C1 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, 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

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
6867
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leukocyte Adhesion Deficiency Type 2, Sequencing SLC35C1 Gene

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

Invitae Phagocyte Defects Panel

Invitae
United States
4227
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14354
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation Panel

Blueprint Genetics
Finland
147
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
234
  • 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

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3032447
  • 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

Leukocyte adhesion deficiency, type 2: SLC35C1 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 34

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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