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Results: 81 to 99 of 99

Tests names and labsConditionsGenes, analytes, and microbesMethods

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
11722
  • C Sequence analysis of the entire coding region

Arthrogryposis, renal dysfunction, and cholestasis: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Hereditary hepatic diseases (55 genes)

Center for Human Genetics Cliniques Universitaires Saint Luc
Belgium
3655
  • C Sequence analysis of the entire coding region

Arthrogryposis, renal dysfunction, and cholestasis

Laboratorio de Genetica Clinica SL
Spain
12
  • C Sequence analysis of the entire coding region

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
2308
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
1246
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposis - Renal Dysfunction - Cholestasis Type 2 , Sequencing VIPAS39 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Cholestasis Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2725
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposes Panel

Blueprint Genetics
Finland
169
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Panel

Blueprint Genetics
Finland
846
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hepatic and pancreatic diseases - panels

MGZ Medical Genetics Center
Germany
469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platelet Disorders

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
1255
  • C Sequence analysis of the entire coding region

VIPAS39 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Liver Diseases Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
7172
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

VIPAS39 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • 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

Arthrogryposis, renal dysfunction, and cholestasis 2

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • C Sequence analysis of the entire coding region

Results: 81 to 99 of 99

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.