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Results: 41 to 60 of 129

Tests names and labsConditionsGenes, analytes, and microbesMethods

GeneAware™ Expanded Panel (Female)

Baylor Genetics
United States
1422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Panel (Male)

Baylor Genetics
United States
1382
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware™ Expanded Plus Panel (Female)

Baylor Genetics
United States
1446
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Plus Panel (Male)

Baylor Genetics
United States
1401
  • 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

Retinitis Pigmentosa Panel 

CGC Genetics Unilabs
Portugal
1203
  • 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

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • 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

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

Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
157
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (WES based NGS panel of 122 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
1122
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Refsum disease (sequence analysis of PHYH gene)

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

Congenital Ichthyosis Slice

GeneDx
United States
149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arrhythmia Panel

Mendelics
Brazil
1311
  • C Sequence analysis of the entire coding region

Ataxia Panel

Mendelics
Brazil
181
  • C Sequence analysis of the entire coding region

Cardiomyopathy Panel

Mendelics
Brazil
1311
  • C Sequence analysis of the entire coding region

Hereditary Retinopathy Panel

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

Results: 41 to 60 of 129

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.