U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

Peroxisome biogenesis disorder 14B (sequence analysis of PEX11B gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

DCXR Gene Pentosuria NGS Genetic DNA Test

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

[Pentosuria], 260800, Autosomal recessive; PNTSU (Pentosuria) (DCXR gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Pentosuria (sequence analysis of DCXR 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

Essential Pentosuria (DCXR Single Gene Test)

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

DCXR 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
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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.