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Results: 41 to 60 of 158

Tests names and labsConditionsGenes, analytes, and microbesMethods

Epilepsy - Intellectual Disability - Autism Spectrum Disorder

Amplexa Genetics Amplexa Genetics A/S
Denmark
1600
  • 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

Dystonia Exome

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • 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

Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A 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

OtoGenome Test for Hearing Loss (110 Genes)

Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine
United States
23109
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TIMM8A Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TIMM8A Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

TIMM8A Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TIMM8A Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

Neurodevelopmental Disorders Panel

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

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • 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

Nuclear-Encoded Mitochondrial Disorders Panel 

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

Metabolic Diseases Panel

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

Results: 41 to 60 of 158

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.