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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

ZMYND11 - 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

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mental retardation, autosomal dominant 30, 616083, Autosomal dominant; MRD30 (Intellectual disability-expressive aphasia-facial dysmorphism syndrome) (ZMYND11 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 dominant 30, 616083, Autosomal dominant; MRD30 (Intellectual disability-expressive aphasia-facial dysmorphism syndrome) (ZMYND11 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

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
4342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cornelia de Lange Syndrome and Related Disorders Panel

Invitae
United States
4431
  • D Deletion/duplication analysis

Mental retardation, autosomal dominant: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
6261
  • C Sequence analysis of the entire coding region

Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes

Reference Laboratory Genetics
Spain
3131
  • 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

Results: 1 to 12 of 12

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.