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Results: 1 to 20 of 99

Tests names and labsConditionsGenes, analytes, and microbesMethods

MBD5 Gene Mental retardation, autosomal dominant type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Comprehensive Epilepsy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1318
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Microdeletion / Microduplication Syndromes

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
2839
  • D Deletion/duplication analysis

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

MBD5 - 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

Labcorp Genetics (formerly Invitae) LabCorp
United States
404241
  • D Deletion/duplication analysis

Epilepsy Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1166
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability exome

Genetic Services Laboratory University of Chicago
United States
6216
  • 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 1, 156200, Autosomal dominant; MRD1 (Autosomal dominant non-syndromic intellectual disability) (MBD5 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 dominant 1, 156200, Autosomal dominant; MRD1 (Autosomal dominant non-syndromic intellectual disability) (MBD5 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci)

Variantyx, Inc.
United States
1378
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Brain malformation

Amplexa Genetics Amplexa Genetics A/S
Denmark
141
  • S Mutation scanning of the entire coding region

Epilepsy - Intellectual Disability - Autism Spectrum Disorder

Amplexa Genetics Amplexa Genetics A/S
Denmark
1600
  • S Mutation scanning of the entire coding region

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
294481
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 99

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.