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Results: 41 to 60 of 85

Tests names and labsConditionsGenes, analytes, and microbesMethods

EPILEPSY EXOME PANEL

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

Comprehensive Eye panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
1695
  • C Sequence analysis of the entire coding region

Cataract panel. NGS panel of 69 genes.

Genologica Medica
Spain
14669
  • C Sequence analysis of the entire coding region

Neuronal migration disorder panel. NGS panel of 58 genes.

Genologica Medica
Spain
11057
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mosaic Carrier Test    

GeneDx
United States
11040
  • T Targeted variant analysis

Comprehensive Brain Malformations Panel

GeneDx
United States
19103
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

Congenital Cataract Gene Sequencing Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
149
  • E Sequence analysis of select exons

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia Xpanded Panel

GeneDx
United States
1999
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cataract Panel

GeneDx
United States
185
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain Malformations Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
11156
  • C Sequence analysis of the entire coding region

Microcephaly Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
6748
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 85

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.