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Results: 41 to 59 of 59

Tests names and labsConditionsGenes, analytes, and microbesMethods

Beacon Expanded Male Carrier Screening Panel

Fulgent Genetics
United States
636298
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
661306
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
690326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Focus Male Carrier Screening Panel

Fulgent Genetics
United States
4728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Focus Female Carrier Screening Panel

Fulgent Genetics
United States
5330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease

Asper Biogene Asper Biogene LLC
Estonia
7050
  • C Sequence analysis of the entire coding region

MUCOPOLYSACCHARIDOSIS TYPE 1 & 5 (HURLER / SCHEIE SYNDROME)

Laboratorio de Genetica Clinica SL
Spain
21
  • C Sequence analysis of the entire coding region

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

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

Mucopolysaccharidosis type 1

Bioarray
Spain
11
  • 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

Mucopolysaccharidosis 1 (Hurler-Scheie syndrome)

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis 1 (Hurler-Scheie syndrome)

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Results: 41 to 59 of 59

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.