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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

USP9X Gene Mental retardation, X-linked type 99 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Congenital Muscular Dystrophy Panel

Genetic Services Laboratory University of Chicago
United States
156
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Brain Malformation Panel

Genetic Services Laboratory University of Chicago
United States
37131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1416
  • E Sequence analysis of select exons

MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL

Laboratorio de Genetica Clinica SL
Spain
1250
  • E Sequence analysis of select exons

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

Cerebral Cortical Malformation NGS Panel

Fulgent Genetics
United States
21042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

B3GNT2 Single Gene

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

Muscular dystrophy, dystroglycanopathy

Institute of Human Genetics Cologne University
Germany
2313
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.