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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

GNAQ - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Sturge-Weber syndrome, somatic, mosaic, 185300; SWS (Sturge-Weber syndrome) (GNAQ 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

Somatic Overgrowth and Vascular Malformations Gene Panel

Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
United States
934
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Sturge-Weber syndrome (mutation p.Arg183Gln on GNAQ gene)

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

GNAQ

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

STURGE-WEBER SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Vascular Malformation NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
3421
  • C Sequence analysis of the entire coding region

Single gene testing GNAQ

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Basal ganglia calcification Panel

CeGaT GmbH
Germany
5227
  • C Sequence analysis of the entire coding region

Somatic Overgrowth Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
8649
  • C Sequence analysis of the entire coding region

Sturge-Weber syndrome

Laboratory of Human Molecular Genetics de Duve Institute - Universite catholique de Louvain
Belgium
11
  • C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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