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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cortical dysplasia, complex, with other brain malformations 3, 615411, Autosomal dominant; CDCBM3 (KIF2A 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 3, 615411, Autosomal dominant; CDCBM3 (KIF2A 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

KIF2A - 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

Cortical Dysplasia, Complex, with Other Brain Malformations 3 via the KIF2A Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Brain Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
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

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

Invitae Epilepsy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cortical dysplasia, complex, with other brain malformations: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
99
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders Panel

CeGaT GmbH
Germany
3250
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders Panel

CeGaT GmbH
Germany
3250
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.