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Results: 1 to 17 of 17 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Arthrogryposis, renal dysfunction and cholestasis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Sequencing Panel

PreventionGenetics
United States
1815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VPS33B Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Arthrogryposis - Renal Dysfunction - Cholestasis Type 1 , Sequencing VPS33B Gene

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

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2521
  • D Deletion/duplication analysis

Cholestasis Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2521
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VPS33B Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • C Sequence analysis of the entire coding region

Arthrogryposis-Renal Dysfunction-Cholestasis NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
22
  • C Sequence analysis of the entire coding region

VPS33B

Institute for Human Genetics University Clinic Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

VPS33B Sequencing

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

Cholestasis Panel by next-generation sequencing (NGS)

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
1918
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Arthrogryposis, renal dysfunction and cholestasis 1 (sequence analysis of VPS33B gene)

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

VPS33B

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

Neonatal and Adult Cholestasis: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
9957
  • C Sequence analysis of the entire coding region

Arthrogryposis, renal dysfunction, and cholestasis 1

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

VPS33B-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome

Bioscientia GmbH Center for Human Genetics
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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.

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