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Results: 21 to 40 of 81

Tests names and labsConditionsGenes, analytes, and microbesMethods

Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci)

Variantyx, Inc.
United States
1378
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

WES mitochondrial disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1369
  • E Sequence analysis of select exons

Optic Atrophy

Amplexa Genetics Amplexa Genetics A/S
Denmark
115
  • S Mutation scanning of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via the NR2F1 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

Optic Atrophy and Neuropathy Panel

PreventionGenetics, part of Exact Sciences
United States
9870
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neurodevelopmental Disorders Panel

Baylor Genetics
United States
1236
  • C Sequence analysis of the entire coding region

Combined Mito Genome Plus Mito Focused Nuclear Gene Panel

GeneDx
United States
1189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity® Retinal Disorders Analysis

Variantyx, Inc.
United States
1394
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Neuro-Ophthalmology Panel 

CGC Genetics Unilabs
Portugal
1223
  • C Sequence analysis of the entire coding region

Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis)

CGC Genetics Unilabs
Portugal
1307
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • 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

Deafness or hypoacusis panel_v.2.0

CGC Genetics Unilabs
Portugal
1272
  • C Sequence analysis of the entire coding region

Hereditary Deafness Panel (Expanded)

Mendelics
Brazil
1104
  • C Sequence analysis of the entire coding region

Hereditary Retinopathy Panel

Mendelics
Brazil
1321
  • C Sequence analysis of the entire coding region

OPTIC ATROPHY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
157
  • E Sequence analysis of select exons

EPILEPSY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1696
  • E Sequence analysis of select exons

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

Results: 21 to 40 of 81

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.