U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Band-like calcification with simplified gyration and polymicrogyria, 251290, Autosomal recessive (Congenital intrauterine infection-like syndrome) (OCLN 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

Band-like calcification with simplified gyration and polymicrogyria, 251290, Autosomal recessive (Congenital intrauterine infection-like syndrome) (OCLN 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

Comprehensive Epilepsy

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

Polymicrogyria panel. 17-gene NGS panel.

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

Neuronal migration disorder panel. NGS panel of 58 genes.

Genologica Medica
Spain
11057
  • C Sequence analysis of the entire coding region

Brain Malformations Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
11156
  • C Sequence analysis of the entire coding region

Pseudo-TORCH syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes

Reference Laboratory Genetics
Spain
4138
  • C Sequence analysis of the entire coding region

Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes

Reference Laboratory Genetics
Spain
1110
  • C Sequence analysis of the entire coding region

PSEUDO-TORCH SYNDROME (BARAITSER-BRETT-PIESOWICZ SYNDROME)

Laboratorio de Genetica Clinica SL
Spain
11
  • E Sequence analysis of select exons

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.