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Results: 1 to 20 of 63

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

MEF2C deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

MEF2C sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

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

Mental retardation, autosomal dominant type 20

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

Chromosome 5q14.3 Deletion Syndrome via the MEF2C Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
6664
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

MEF2C Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

MEF2C Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

MEF2C Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy, Dominant and X-linked NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
2624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MEF2C Gene sequencing

Michigan Medical Genetics Laboratories University of Michigan
United States
21
  • C Sequence analysis of the entire coding region

Rett/Angelman Syndrome Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2122
  • C Sequence analysis of the entire coding region

Rett/Angelman Syndrome Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
1920
  • D Deletion/duplication analysis

Invitae Syndromic Neurodevelopmental Epilepsy Panel

Invitae
United States
1916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
111103
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy

Asper Biotech Asper Biotech Ltd.
Estonia
121123
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 63

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.