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Results: 1 to 20 of 52 (representing 19 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Fumarase deficiency

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fumarase deficiency

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
329300
  • C Sequence analysis of the entire coding region

FH. Detection of the c.1431_1433dupAAA mutation by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

FH. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel

PreventionGenetics
United States
1212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Hereditary Leiomyomatosis and Renal Cell Cancer or Fumarase Deficiency via the FH Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neonatal Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Pediatric Solid Tumors Panel

Invitae
United States
9148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hereditary Cancer Panel

Genetic Services Laboratory University of Chicago
United States
1750
  • C Sequence analysis of the entire coding region

Renal / Urinary Cancer Comprehensive Panel

Fulgent Genetics
United States
77327
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Paraganglioma-Pheochromocytoma Comprehensive Panel

Fulgent Genetics
United States
37111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sarcoma Comprehensive Panel

Fulgent Genetics
United States
92126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cancer Panel

Fulgent Genetics
United States
1736124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pancreatic Cancer Comprehensive Panel

Fulgent Genetics
United States
61422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3053447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 52

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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