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Results: 1 to 20 of 25 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Anemia, dyserythropoietic congenital type II

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

Hyperferritinemia Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1515
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Congenital Dyserythropoietic Anemia Sequencing Panel

PreventionGenetics
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene

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

SEC23B. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

CDAN1. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

Dyserythropoietic anemia, congenital

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
44
  • 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

Erythrocytes, Anemia Panel

CeGaT GmbH
Germany
1433
  • C Sequence analysis of the entire coding region

Hemolytic Anemia Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
3232
  • D Deletion/duplication analysis

Congenital Dyserythropoietic Anemia Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
56
  • D Deletion/duplication analysis

Congenital dyserythropoietic anemia type 2

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

Anemia dyserythropoietic type 2 (sequence analysis of SEC23B gene)

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

Non-immune Hydrops Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8787
  • C Sequence analysis of the entire coding region

SEC23B Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

SEC23B

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

Emory Genetics Laboratory Emory University School of Medicine
United States
8566
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Dyserythropoietic Anemia

Blood Cell Disease Reference Laboratory Yale University School of Medicine
United States
23
  • E Sequence analysis of select exons

SEC23B Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Disorders of Glycosylation NGS Panel

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

Results: 1 to 20 of 25

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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