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Results: 1 to 20 of 69

Tests names and labsConditionsGenes, analytes, and microbesMethods

SRPX2 - NGS including CNV analysis

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

Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (Rolandic epilepsy-speech dyspraxia syndrome) (SRPX2 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

Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (Rolandic epilepsy-speech dyspraxia syndrome) (SRPX2 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

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

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

Comprehensive Brain Malformation Panel

Genetic Services Laboratory University of Chicago
United States
37131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Malformations of cortical development (lissencephaly, periventricular nodular heterotopia, polymicrogyria, megalencephaly-polymicrogyria and dysplastic megalencephaly) (WES based NGS panel of 111 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
5110
  • C Sequence analysis of the entire coding region

Epilepsy Panel 

CGC Genetics Unilabs
Portugal
1832
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11293
  • C Sequence analysis of the entire coding region

X-linked Intellectual Disability Panel 

CGC Genetics Unilabs
Portugal
1104
  • C Sequence analysis of the entire coding region

Rolandic epilepsy, mental retardation and speech dyspraxia (sequence analysis of SRPX2 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

X-LINKED INTELLECTUAL DISABILITY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1143
  • E Sequence analysis of select exons

EPILEPSY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1696
  • E Sequence analysis of select exons

Polymicrogyria panel. 17-gene NGS panel.

Genologica Medica
Spain
2217
  • C Sequence analysis of the entire coding region

X-linked intellectual disability panel. 99-gene NGS panel.

Genologica Medica
Spain
14399
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 69

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.