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Results: 1 to 20 of 175

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

HBA1 Gene Thalassemia, alpha NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

NewbornGeneID

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

HemeZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
10796
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HBA1 - MLPA

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

HBA1 - Sanger sequencing

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

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • 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

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Erythremias, alpha- (Prenatal) (MLPA)

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

Hemoglobin H disease, nondeletional, 613978 (Hemoglobin H disease) (Prenatal) (MLPA)

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

Heinz body anemia, 140700, Autosomal dominant (Heinz body anemia) (Prenatal) (MLPA)

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

Hemoglobin H disease, nondeletional, 613978 (Hemoglobin H disease) (MLPA)

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

Heinz body anemia, 140700, Autosomal dominant (Heinz body anemia) (MLPA)

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

Results: 1 to 20 of 175

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.