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Results: 1 to 20 of 136

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

Carrier Screening - Alpha Thalassemia (HBA1/2)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
22
  • D Deletion/duplication analysis

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HBA1 - MLPA

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis

HBA2 - MLPA

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis

HBA1 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
51
  • C Sequence analysis of the entire coding region

HBA2 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
41
  • C Sequence analysis of the entire coding region

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199165
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Hemolytic Anemia Cascade

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2431
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methemoglobinemias, alpha- (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
12
  • D Deletion/duplication analysis

Methemoglobinemias, alpha- (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
12
  • D Deletion/duplication analysis

Thalassemia, alpha-, 604131 (Heinz body anemia) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
12
  • D Deletion/duplication analysis

Thalassemias, alpha-, 604131 (Alpha-thalassemia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
12
  • D Deletion/duplication analysis

Thalassemias, alpha-, 604131 (Alpha-thalassemia) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
12
  • D Deletion/duplication analysis

Thalassemia, alpha-, 604131 (Heinz body anemia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
12
  • D Deletion/duplication analysis

Thalassemia, alpha-, 604131 (Heinz body anemia) (HBA1-HBA2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
12
  • C Sequence analysis of the entire coding region

Thalassemia, alpha-, 604131 (Heinz body anemia) (HBA1-HBA2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
12
  • C Sequence analysis of the entire coding region

UNITY Carrier Screen

BillionToOne
United States
165
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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 Core Carrier Screen without X-linked Disorders

Invitae
United States
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 136

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.