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Results: 161 to 180 of 182

Tests names and labsConditionsGenes, analytes, and microbesMethods

Microcephaly

Asper Biogene Asper Biogene LLC
Estonia
11196
  • C Sequence analysis of the entire coding region

Smith-Lemli-Opitz syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

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

Smith-Lemli-Opitz Syndrome, DHCR7 sequencing

Molecular Diagnostics Laboratory Seoul National University Hospital
South Korea
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DHCR7

Division of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

DHCR7 Single Gene

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

Smith-Lemli-Opitz (DHCR7) DNA Test

Athena Diagnostics Inc
United States
11
  • C Sequence analysis of the entire coding region

Cholestasis NGS Panel

Fulgent Genetics
United States
12166
  • D Deletion/duplication analysis
  • 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

Short Stature NGS Panel

Fulgent Genetics
United States
2411
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • 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

Autism NGS Panel

Fulgent Genetics
United States
170106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Smith-Lemli-Opitz syndrome

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

Noonan Spectrum Disorders/Rasopathies

Asper Biogene Asper Biogene LLC
Estonia
4536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Smith-Lemli-Opitz syndrome

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

Smith-Lemli-Opitz syndrome: DHCR7 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

Smith-Lemli-Opitz Syndrome

Asper Biogene Asper Biogene LLC
Estonia
11
  • C Sequence analysis of the entire coding region

Smith-Lemli-Opitz Syndrome

Laboratory of Human Genetics GENOMED Health Care Center
Poland
11
  • E Sequence analysis of select exons

Results: 161 to 180 of 182

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.