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Results: 1 to 20 of 75

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia

BloodGenetics
Spain
1211
  • 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

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

VHL - MLPA

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

VHL - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
41
  • 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

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pancreatitis Panel

Centogene AG - the Rare Disease Company
Germany
2729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Multi-Cancer + RNA Panel

Invitae
United States
14263
  • D Deletion/duplication analysis

Invitae Common Hereditary Cancers + RNA Panel

Invitae
United States
11447
  • D Deletion/duplication analysis

Invitae Familial Erythrocytosis Panel

Invitae
United States
95
  • D Deletion/duplication analysis

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

Invitae Cystic Kidney Disease Panel

Invitae
United States
9644
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
249155
  • C Sequence analysis of the entire coding region

Erythrocytosis, familial, 2, 263400, Autosomal recessive; ECYT2 (Chuvash erythrocytosis) (MLPA)

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

Erythrocytosis, familial, 2, 263400, Autosomal recessive; ECYT2 (Chuvash erythrocytosis) (VHL 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

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 75

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.