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Results: 1 to 20 of 54

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Diagnostic génotypique direct de la tyrosinémie héréditaire de type 1

Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec
Canada
11
  • T Targeted variant analysis

Baby Genes Newborn Screening Panel

Baby Genes Inc.
United States
6581
  • T Targeted variant analysis

Tyrosinemia type 1B

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

Tyrosinemia type I

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

Tyrosinemia type I

PROCREA Genetic Laboratory PROCREA/Opmedic Group Inc.
Canada
11
  • T Targeted variant analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

FAH. Detection of the mutations c.1062 5G>A (IVS12 5 G>A), c.554-1G>T (IVS6-1 G>T), c.607-6T>G (IVS7-6 T>G) and p.Pro261Leu (P261L) by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

FAH. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

FAH Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

FAH Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FAH Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

FAH Comprehensive - Sequence & Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Amino Acid Analysis - Plasma

Baylor Miraca Genetics Laboratories
United States
2526
  • A Analyte

Tyrosinemia, Type I via the FAH Gene

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

Succinylacetone Determination - Urine

Baylor Miraca Genetics Laboratories
United States
11
  • A Analyte

Tyrosinemia Type I

Counsyl
United States
11
  • C Sequence analysis of the entire coding region

Invitae Elevated Succinylacetone Test

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

Results: 1 to 20 of 54

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.