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Results: 21 to 40 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

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

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
525339
  • 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

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

Leigh Disease Panel by Massively Parallel Sequencing

Baylor Genetics
United States
182
  • C Sequence analysis of the entire coding region

Nuclear Panel by Massively Parallel Sequencing

Baylor Genetics
United States
1163
  • C Sequence analysis of the entire coding region

Mitochondrial Respiratory Chain Complex IV Deficiency Panel by Massively Parallel Sequencing

Baylor Genetics
United States
110
  • C Sequence analysis of the entire coding region

Dual Genome Panel by Massively Parallel Sequencing

Baylor Genetics
United States
1163
  • C Sequence analysis of the entire coding region

Dual Genome Leigh Disease Panel by Massively Parallel Sequencing

Baylor Genetics
United States
182
  • E Sequence analysis of select exons

Mitochondrial Respiratory Chain Complex I-V Nuclear Gene Deficiency Panel by Massively Parallel Sequencing

Baylor Genetics
United States
143
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

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

Mitochondrial Panel, Nuclear genes

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
145134
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Oxidative Phosphorylation Disorders NGS Panel

Fulgent Genetics
United States
416235
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurogenetic Disorders - panels

MGZ Medical Genetics Center
Germany
14597
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Erythrocytes, Anemia Panel

CeGaT GmbH
Germany
1433
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 49

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.