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Results: 1 to 20 of 35

Tests names and labsConditionsGenes, analytes, and microbesMethods

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Red Blood Cell Enzyme Panel, Next-Generation Sequencing

Mayo Clinic Laboratories Mayo Clinic
United States
1917
  • C Sequence analysis of the entire coding region

HBB - MLPA

Centogene AG - the Rare Disease Company
Germany
81
  • D Deletion/duplication analysis

HBB - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
249155
  • C Sequence analysis of the entire coding region

Thalassemia-beta, dominant inclusion-body, 603902 (Dominant beta-thalassemia) (HBB gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Thalassemia-beta, dominant inclusion-body, 603902 (Dominant beta-thalassemia) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Thalassemia-beta, dominant inclusion-body, 603902 (Dominant beta-thalassemia) (HBB gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Thalassemia-beta, dominant inclusion-body, 603902 (Dominant beta-thalassemia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Invitae Broad Carrier Screen without X-linked Disorders

Invitae
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Invitae
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sickle Cell Disease Mutation Analysis

Baylor Genetics
United States
51
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

M Beacon Focus B; 14 Genes

Fulgent Genetics
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Ashkenazi Jewish Male Carrier Screening Panel

Fulgent Genetics
United States
14541
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methemoglobinemia, Beta-Globin Type (HBB Single Gene Test)

Fulgent Genetics
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sickle Cell Disease (HBB Single Gene Test)

Fulgent Genetics
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Erythrocytosis NGS Panel

Fulgent Genetics
United States
6124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 35

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.