GTR Home > Tests > Search results - 601949[mim]

Apply filters

Showing tests for all 2092 conditions

Compare labs

Your search term can be found in tests with a total of 2092 conditions. Only 1000 conditions are displayed in this filter box. Please type the name of the condition in the search box in this filter to find the specific condition. You can use the filters below to narrow down your results.
If the name of the condition you typed is not present, please try another query or search using the All GTR tab.

  • Hide states
More locations

GTR test search results for 601949[mim]

C Clinical test, R Research test

Showing 1 to 20 of 27 tests for 2092 conditions in 16 labs

CTruGenome Predisposition Screen (Whole Genome Sequencing)

Lab: Illumina Clinical Services Laboratory Illumina San Diego, California, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (1541)
Total targets (1578)

CEpisodic ataxia type 5

Lab: Centogene AG - the Rare Disease Company Rostock, Mecklenburg-Vorpommern, Germany
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CEpisodic Ataxia Type 5

Lab: (AC) Atlanta Center: Medical Neurogenetics, LLC. Atlanta, Georgia, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region

CepiSEEK® Infancy and Childhood Epilepsy Panel

Lab: Courtagen Diagnostics Laboratory Courtagen Life Sciences Woburn, Massachusetts, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (72)
Total targets (70)

CComprehensive Epilepsy Panel

Lab: Transgenomic New Haven, Connecticut, United States
Total conditions (527)
Total targets (377)

CInfantile and Childhood Epilepsy Panel

Lab: Genetic Services Laboratory University of Chicago Chicago, Illinois, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total targets (94)

CepiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders (489 genes)

Lab: Courtagen Diagnostics Laboratory Courtagen Life Sciences Woburn, Massachusetts, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (620)
Total targets (421)

CEpilepsy

Total conditions (17)
Total targets (212)

CEpisodic Ataxia and Phenocopies

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total targets (29)

CBrain Malformations / Neuronal Migration Disorders

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total targets (266)

CAtaxia

Conditions
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total targets (34)

CProgressive Myoclonic Epilepsy

Total conditions (13)
Total targets (31)

CChildhood-Onset Epilepsy Panel

Lab: GeneDx Gaithersburg, Maryland, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (48)
Total targets (50)

CComprehensive Epilepsy Panel

Lab: GeneDx Gaithersburg, Maryland, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (55)
Total targets (70)

CEpisodic ataxia type 5 (sequence analysis of CACNB4 gene)

Lab: CGC Genetics Porto, Porto, Portugal
Test targets
Methods
  • C Sequence analysis of the entire coding region

CCACNB4

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CCACNB4. Complete sequencing

Lab: Instituto de Medicina Genomica Paterna, Comunidad Valenciana, Spain
Test targets
Methods
  • C Sequence analysis of the entire coding region

CNeurology: Sequencing Panel

Lab: Emory Genetics Laboratory Emory University Decatur, Georgia, United States
Total conditions (257)
Total targets (165)

CHereditary Neuropathies: Sequencing Panel

Lab: Emory Genetics Laboratory Emory University Decatur, Georgia, United States
Total conditions (112)
Total targets (70)

CEpilepsy and Seizure Disorders: Sequencing and Deletion/Duplication Panel

Lab: Emory Genetics Laboratory Emory University Decatur, Georgia, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (168)
Total targets (108)

Showing 1 to 20 of 27 tests for 2092 conditions in 16 labs

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.