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Results: 21 to 40 of 101

Tests names and labsConditionsGenes, analytes, and microbesMethods

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
239158
  • D Deletion/duplication analysis
  • 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

Glycogen Storage Disease and Disorders of Glucose Metabolism Panel

PreventionGenetics, part of Exact Sciences
United States
3333
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lafora Disease via the NHLRC1 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

Epilepsy Panel

Baylor Genetics
United States
1397
  • 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

Hereditary ataxias panel_v.2.0

CGC Genetics Unilabs
Portugal
1427
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Neurodegenerative panel _v.2.0

CGC Genetics Unilabs
Portugal
15207
  • C Sequence analysis of the entire coding region

Epilepsy panel_v.2.0

CGC Genetics Unilabs
Portugal
1759
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glycogenosis (WES based NGS panel of 28 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
128
  • C Sequence analysis of the entire coding region

Hereditary dementias (WES based NGS panel of 44 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
144
  • C Sequence analysis of the entire coding region

Alzheimer's and other dementias panel_v.2.0

CGC Genetics Unilabs
Portugal
120
  • C Sequence analysis of the entire coding region

Epilepsies (deletion/duplication analysis on CHRNA4, CHRNB2, EPM2A, KCNQ1, KCNQ3 and NHLRC1 genes)

CGC Genetics Unilabs
Portugal
16
  • D Deletion/duplication analysis

Epilepsy, progressive myoclonic 2B (Lafora) (sequence analysis of NHLRC1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Expanded Epilepsy Panel

Mendelics
Brazil
1240
  • C Sequence analysis of the entire coding region

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1139
  • E Sequence analysis of select exons

Results: 21 to 40 of 101

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.