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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

GPT2 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation, autosomal recessive 49, 616281, Autosomal recessive; MRT49 (Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome) (GPT2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Mental retardation, autosomal recessive 49, 616281, Autosomal recessive; MRT49 (Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome) (GPT2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Carbohydrate Metabolism Deficiency (NGS Panel and Copy Number Analysis + mtDNA)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1052
  • C Sequence analysis of the entire coding region

Mental retardation, autosomal recessive: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
4848
  • C Sequence analysis of the entire coding region

Results: 1 to 8 of 8

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