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Results: 21 to 40 of 132

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae eMERGE Panel

Invitae
United States
5916
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

PALB2 (PARTNER AND LOCALIZER OF BRCA2

Center for Human Genetics, Inc
United States
21
  • C Sequence analysis of the entire coding region

CancerNext® 37

Ambry Genetics
United States
7937
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for CancerNext® 37 (+RNAinsight®)

Ambry Genetics
United States
7918
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for Penn Cancer Grant Panel (+RNAinsight®)

Ambry Genetics
United States
7918
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Penn Cancer Grant Panel

Ambry Genetics
United States
7980
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VACTERL Association and Related Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
12384
  • 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

Inherited Bone Marrow Failure Panel

PreventionGenetics, Part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

BRCANext-Expanded™

Ambry Genetics
United States
3522
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BRCANext™

Ambry Genetics
United States
3517
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fanconi anemia, complementation group N, 610832; FANCN (Fanconi anemia) (Prenatal) (MLPA)

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

Fanconi anemia, complementation group N, 610832; FANCN (Fanconi anemia) (MLPA)

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

Fanconi anemia, complementation group N, 610832; FANCN (Fanconi anemia) (PALB2 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

Fanconi anemia, complementation group N, 610832; FANCN (Fanconi anemia) (PALB2 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

Medulloblastoma Panel

PreventionGenetics, Part of Exact Sciences
United States
219
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Wilms Tumor Panel

PreventionGenetics, Part of Exact Sciences
United States
4828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Variant Resolution Test for CancerNext® (+RNAinsight®)

Ambry Genetics
United States
7918
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Invitae Genetic Health Screen

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 132

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.