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Results: 61 to 73 of 73

Tests names and labsConditionsGenes, analytes, and microbesMethods

GeneAware Complete Panel Version 2 (Male)

Baylor Genetics
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Genetics
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal Disorders and Mucopolysaccharidosis Panel

Blueprint Genetics
Finland
15102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC26A1 Single Gene

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hurler syndrome - MPS I (Iduronidase)

Diagnostics Division CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
India
41
  • E Enzyme assay

Lysosomal Storage Disease NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
7475
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8687
  • C Sequence analysis of the entire coding region

IDUA Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia

Asper Biogene Asper Biogene LLC
Estonia
16674
  • 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

Mucopolysaccharidosis NGS Panel

Fulgent Genetics
United States
2114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hurler Syndrome (MPS I): IDUA Sequencing

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 61 to 73 of 73

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.