GTR Home > Tests > Search results - 604878[mim]

Apply filters

Showing tests for all 1693 conditions

Compare labs

Your search term can be found in tests with a total of 1693 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

GTR test search results for 604878[mim]

C Clinical test, R Research test

Showing 1 to 20 of 27 tests for 1693 conditions in 14 labs

CSLC12A6 deletion/duplication analysis

Lab: Genetic Services Laboratory University of Chicago Chicago, Illinois, United States
Test targets
Methods
  • D Deletion/duplication analysis

CSLC12A6 sequencing

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

CAgenesis of the corpus callosum with peripheral neuropathy

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

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)

CSLC12A6. Sequencing of the exons 11, 15, 18 and 22

Lab: Instituto de Medicina Genomica Paterna, Comunidad Valenciana, Spain
Test targets
Methods
  • E Sequence analysis of select exons

CSLC12A6. Detection of the mutation c.2436delC by sequencing

Lab: Instituto de Medicina Genomica Paterna, Comunidad Valenciana, Spain
Test targets
Methods
  • T Targeted variant analysis

CAndermann Syndrome via the SLC12A6 Gene

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region

CAndermann Syndrome

Lab: Counsyl South San Francisco, California, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing

Lab: ARUP Laboratories, Molecular Genetics Salt Lake City, Utah, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (34)
Total targets (78)

CCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel

Lab: ARUP Laboratories, Molecular Genetics Salt Lake City, Utah, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (34)
Total targets (78)

CHereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes)

Lab: CGC Genetics Porto, Porto, Portugal
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total targets (74)

CPan-Ethnic Carrier Screen: Gene Sequencing Panel

Test targets
Methods
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
Total conditions (136)
Total targets (147)

CCharcot-Marie-Tooth and Sensory Neuropathies Panel

Lab: CeGaT GmbH Tuebingen, Baden-Wurttemberg, Germany
Total conditions (65)
Total targets (83)

CNeuropathy

Total conditions (7)
Total targets (122)

CSevere Recessive Childhood Diseases

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total targets (436)

CSyndromic Disorders

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total targets (180)

Showing 1 to 20 of 27 tests for 1693 conditions in 14 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.