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Results: 1 to 20 of 70

Tests names and labsConditionsGenes, analytes, and microbesMethods

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • 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

CentoCancer

Centogene AG - the Rare Disease Company
Germany
11468
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
156107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SDHD - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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 Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Gastric Cancer Panel

PreventionGenetics, part of Exact Sciences
United States
3619
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Paragangliomas 1, with or without deafness, 168000, Autosomal dominant; PGL1 (Hereditary pheochromocytoma-paraganglioma) (MLPA)

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

Paragangliomas 1, with or without deafness, 168000, Autosomal dominant; PGL1 (Hereditary pheochromocytoma-paraganglioma) (SDHD 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

Invitae 78 Gene Actionable Disorders Panel

Invitae
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SDHD - hereditary paraganglioma and pheochromocytoma

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
21
  • C Sequence analysis of the entire coding region

Pediatric Cancer Panel

PreventionGenetics, part of Exact Sciences
United States
7864
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Pheochromocytoma and Paraganglioma Panel

Genetic Services Laboratory University of Chicago
United States
1016
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 70

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.