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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

HERC2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Intellectual Disability exome

Genetic Services Laboratory University of Chicago
United States
6216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation, autosomal recessive 38, 615516, Autosomal recessive; MRT38 (Developmental delay with autism spectrum disorder and gait instability) (HERC2 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

Mental retardation, autosomal recessive 38, 615516, Autosomal recessive; MRT38 (Developmental delay with autism spectrum disorder and gait instability) (HERC2 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

Non-Specific Intellectual Disability Panel

Genetic Services Laboratory University of Chicago
United States
6216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rett syndrome and other related syndromes. 34-gene NGS panel.

Genologica Medica
Spain
5834
  • 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

Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes

Reference Laboratory Genetics
Spain
3232
  • C Sequence analysis of the entire coding region

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes

Reference Laboratory Genetics
Spain
9491
  • C Sequence analysis of the entire coding region

Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes

Reference Laboratory Genetics
Spain
1718
  • C Sequence analysis of the entire coding region

HERC2 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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.