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Results: 1 to 20 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

TMTC3 - 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

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

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication 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

Lissencephaly 8, 617255, Autosomal recessive; LIS8 (TMTC3 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

Lissencephaly 8, 617255, Autosomal recessive; LIS8 (TMTC3 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

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

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 core NGS test

HNL Genomics Connective Tissue Gene Tests
United States
1110
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lissencephaly core Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
1110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lissencephaly core Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
1110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

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

TMTC3

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 30

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.