U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

EGR2 Gene CMT4E NGS Genetic DNA Test

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

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Sedoheptulokinase deficiency (sequence analysis of SHPK gene)

CGC Genetics Unilabs
Portugal
11
  • 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

Leukodystrophy Xpanded Panel

GeneDx
United States
19293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SHPK Single Gene

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

Sedoheptulokinase deficiency (SHPK)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • A Analyte
  • C Sequence analysis of the entire coding region

Results: 1 to 8 of 8

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.