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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Orofaciodigital syndrome type 1 Joubert syndrome 10 Simpson-Golabi-Behmel syndrome type 2 Retinitis pigmentosa 23 (OFD1 gene sequencing)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis 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

RALGAPA1 - 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 exome

Genetic Services Laboratory University of Chicago
United States
6216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy exome

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

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Non-Specific Intellectual Disability Panel

Genetic Services Laboratory University of Chicago
United States
6216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autosomal Recessive Non-Specific Intellectual Disability Panel

Genetic Services Laboratory University of Chicago
United States
154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Epilepsy panel_v.2.0

CGC Genetics Unilabs
Portugal
1759
  • 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

RALGAPA1 Single Gene

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

Results: 1 to 15 of 15

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.