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Results: 21 to 40 of 89

Tests names and labsConditionsGenes, analytes, and microbesMethods

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
249155
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
266186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fanconi anemia, complementation group J, 609054; FANCJ (Fanconi anemia) (Prenatal) (MLPA)

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

Fanconi anemia, complementation group J, 609054; FANCJ (Fanconi anemia) (BRIP1 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

Fanconi anemia, complementation group J, 609054; FANCJ (Fanconi anemia) (BRIP1 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 J, 609054; FANCJ (Fanconi anemia) (MLPA)

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

Invitae Genetic Health Screen

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

Invitae Cancer Screen

Invitae
United States
16062
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®)

Ambry Genetics
United States
14618
  • D Deletion/duplication analysis
  • R RNA 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

CustomNext-Cancer®

Ambry Genetics
United States
14691
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CancerNext®

Ambry Genetics
United States
8034
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CancerNext-Expanded®

Ambry Genetics
United States
12171
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Limb Malformation Panel

PreventionGenetics, part of Exact Sciences
United States
10399
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
2933
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Breast and Ovarian Cancer - High Risk and Lynch Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
1917
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Cancer Test

Color Diagnostics, LLC DBA Color Health
United States
2429
  • C Sequence analysis of the entire coding region

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
13785
  • D Deletion/duplication analysis

Results: 21 to 40 of 89

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.

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