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Results: 141 to 158 of 158

Tests names and labsConditionsGenes, analytes, and microbesMethods

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatemic Rickets Panel

Blueprint Genetics
Finland
113
  • 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

Invitae Elevated Succinylacetone Test

Labcorp Genetics (formerly Invitae) LabCorp
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Comprehensive Hereditary Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
128130
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tyrosinemia type 1

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

Single gene testing FAH

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Hypophosphatemic rickets Panel

CeGaT GmbH
Germany
711
  • C Sequence analysis of the entire coding region

FAH

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

Tyrosinemia type 1 ( FAH)

Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
India
11
  • C Sequence analysis of the entire coding region

FAH 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
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Tyrosinemia Type I

Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
India
11
  • A Analyte
  • C Sequence analysis of the entire coding region

Results: 141 to 158 of 158

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.