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Results: 1 to 20 of 120

Tests names and labsConditionsGenes, analytes, and microbesMethods

MPIG6B - Genetic Analysis

Versiti Diagnostic Laboratories Versiti, Inc
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RELN Gene Epilepsy, familial temporal lobe type 7 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

RELN Gene Lissencephaly type 2 (Norman-Roberts type) NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Comprehensive Epilepsy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1318
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

RELN - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

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 Hypogonadotropic Hypogonadism Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6746
  • D Deletion/duplication analysis

Invitae Brain Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
247161
  • D Deletion/duplication analysis

Epilepsy Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1166
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

Epilepsy, familial temporal lobe, 7, 616436, Autosomal dominant; ETL7 (Autosomal dominant epilepsy with auditory features) (RELN 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

Results: 1 to 20 of 120

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.