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Results: 1 to 20 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

SYNGAP1 - 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

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Epilepsy exome

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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 5, 612621, Autosomal dominant; MRD5 (Autosomal dominant non-syndromic intellectual disability) (SYNGAP1 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 5, 612621, Autosomal dominant; MRD5 (Autosomal dominant non-syndromic intellectual disability) (SYNGAP1 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

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
144124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy Panel

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Clinical Epilepsy NGS Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
5445
  • C Sequence analysis of the entire coding region

SYNGAP1

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 47

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.