GTR Home > Tests > Search results - MMACHC[gene]

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Your search term can be found in tests with a total of 2810 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 25974[geneid]

C Clinical test, R Research test

Showing 1 to 20 of 50 tests for 2810 conditions in 24 labs

CAllNeuro panel

Lab: Centogene AG - the Rare Disease Company Rostock, Mecklenburg-Vorpommern, Germany
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (602)
Total targets (1038)

CBaby Genes Newborn Screening Panel

Lab: Baby Genes Inc. Golden, Colorado, United States
Total conditions (65)
Total targets (81)

CMethylmalonic aciduria cbIC type

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

CMMACHC Sequence Analysis

Test targets
Methods
  • 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)

CMMACHC. Complete sequencing

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

CMMACHC. Detection of the mutation c.271dupA by sequencing

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

CMMACHC Sequence Analysis

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

CMMACHC Comprehensive - Sequence & Deletion/Duplication Analysis

Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CComprehensive Epilepsy Panel

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

CMethylmalonic Aciduria and Homocystinuria, cblC type, via the MMACHC Gene

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

CMethylmalonic Aciduria and Homocystinuria Sanger Sequencing 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

Showing 1 to 20 of 50 tests for 2810 conditions in 24 labs

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