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Results: 1 to 20 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

Common Hereditary Cancer Screening Panel

PreventionGenetics, part of Exact Sciences
United States
9455
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

POLD1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pulmonary Panel

Centogene AG - the Rare Disease Company
Germany
99101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Multi-Cancer + RNA Panel

Invitae
United States
14363
  • D Deletion/duplication analysis

Invitae Common Hereditary Cancers + RNA Panel

Invitae
United States
11447
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

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

Monogenic Diabetes Panel

PreventionGenetics, part of Exact Sciences
United States
10154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypercholesterolemia panel

Genetic Services Laboratory University of Chicago
United States
1510
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dyslipidemia panel

Genetic Services Laboratory University of Chicago
United States
1729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381, Autosomal dominant; MDPL (Mandibular hypoplasia-deafness-progeroid syndrome) (POLD1 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

Generalized, Partial and Atypical Lipodystrophy Panel

PreventionGenetics, part of Exact Sciences
United States
5729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Partial Lipodystrophy (FPLD) Panel

PreventionGenetics, part of Exact Sciences
United States
2916
  • 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

Invitae Cancer Screen

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

Results: 1 to 20 of 47

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.