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Results: 1 to 20 of 54

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

HemeZoom

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

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

HBA2 - MLPA

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

HBB - MLPA

Centogene AG - the Rare Disease Company
Germany
81
  • 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

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • 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
250155
  • C Sequence analysis of the entire coding region

Erythremias, alpha- (Prenatal) (MLPA)

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

Heinz body anemias, beta-, 140700, Autosomal dominant (Heinz body anemia) (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

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

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

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

Heinz body anemias, beta-, 140700, Autosomal dominant (Heinz body anemia) (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

Results: 1 to 20 of 54

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.