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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

OTUD6B - 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

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

Epilepsy - Intellectual Disability - Autism Spectrum Disorder

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

Kabuki Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy panel_v.2.0

CGC Genetics Unilabs
Portugal
1759
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (sequence analysis of OTUD6B gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Expanded Epilepsy Panel

Mendelics
Brazil
1240
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OTUD6B Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.