GTR Home > Tests > Search results - 248800[mim]

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Your search term can be found in tests with a total of 2272 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.
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GTR test search results for 248800[mim]

C Clinical test, R Research test

Showing 1 to 20 of 31 tests for 2272 conditions in 18 labs

CHereditary ataxias (NGS panel for 44 genes)

Lab: CGC Genetics Porto, Porto, Portugal
Total conditions (43)
Total targets (44)

CAtaxia and differential diagnoses Panel

Lab: CeGaT GmbH Tuebingen, Baden-Wurttemberg, Germany
Total conditions (174)
Total targets (147)

CHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

Lab: CeGaT GmbH Tuebingen, Baden-Wurttemberg, Germany
Total conditions (147)
Total targets (133)

CCataract, congenital, associated with Marinesco-Sjogren Syndrome

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

CSIL1 Gene Sequencing

Test targets
Methods
  • C Sequence analysis of the entire coding region

CCongenital Cataracts NextGen Sequencing (NGS) Panel

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis
Total conditions (31)
Total targets (29)

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)

CMarinesco-Sjogren Syndrome via the SIL1 Gene

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

CSIL1. Complete sequencing

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

CSpinocerebellar Ataxia

Lab: Asper Biotech Asper Biotech Ltd. Tartu, Tartumaa, Estonia
Total conditions (70)
Total targets (67)

CCongenital Cataract, SIL1 Gene Sequencing

Test targets
Methods
  • C Sequence analysis of the entire coding region

CMarinesco-Sjogren syndrome

Lab: Bioarray Elche, Comunidad Valenciana, Spain
Test targets
Methods
  • C Sequence analysis of the entire coding region

CSingle gene testing SIL1

Lab: CeGaT GmbH Tuebingen, Baden-Wurttemberg, Germany
Test targets
Methods
  • C Sequence analysis of the entire coding region

CSIL1

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

CSIL1 (Marinesco-Sjogren Syndrome) DNA Sequencing Test

Lab: Athena Diagnostics Inc Quest Diagnostics Marlborough, Massachusetts, United States
Test targets
Methods
  • E Sequence analysis of select exons

CAutosomal Recessive Ataxia Evaluation

Lab: Athena Diagnostics Inc Quest Diagnostics Marlborough, Massachusetts, United States
Test targets
Methods
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis
Total conditions (6)
Total targets (6)

CComplete Ataxia Evaluation

Lab: Athena Diagnostics Inc Quest Diagnostics Marlborough, Massachusetts, United States
Test targets
Methods
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis
Total conditions (20)
Total targets (20)

CHereditary Neuropathies: Sequencing Panel

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (123)
Total targets (86)

CExpanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panel

Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (154)
Total targets (79)

Showing 1 to 20 of 31 tests for 2272 conditions in 18 labs

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