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Results: 41 to 55 of 55

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • 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

Leukodystrophy Xpanded Panel

GeneDx
United States
19293
  • D Deletion/duplication analysis
  • 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

Lissencephaly: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1411
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorder Panel

Blueprint Genetics
Finland
158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lissencephaly Panel

Blueprint Genetics
Finland
119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lissencephaly Panel

GeneDx
United States
224
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LAMB1 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51304674
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 55 of 55

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.