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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Lissencephaly Panel

PreventionGenetics, part of Exact Sciences
United States
2928
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cortical dysplasia, complex, with other brain malformations 1, 614039, Autosomal dominant; CDCBM1 (Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation) (TUBB3 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

Cortical dysplasia, complex, with other brain malformations 1, 614039, Autosomal dominant; CDCBM1 (Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation) (TUBB3 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

Brain Malformation Panel

PreventionGenetics, part of Exact Sciences
United States
7952
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lissencephaly and related disorders Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lissencephaly and related disorders Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lissencephaly and related disorders NGS test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Strabismus Syndrome or Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Panel

PreventionGenetics, part of Exact Sciences
United States
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via the TUBB3 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • 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

Polymicrogyria panel. 17-gene NGS panel.

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

Neuro-ophthalmology panel. NGS panel of 38 genes.

Genologica Medica
Spain
7538
  • 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

TUBB3 Gene Sequence Analysis

Duzen Laboratories Duzen BBAGUAS
Turkey
21
  • 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

TUBB3

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

Results: 1 to 20 of 41

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.