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Results: 1 to 20 of 68 (representing 39 labs)

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

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

Phenylketonuria

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

PAH sequencing

University of Minnesota Physicians Outreach Laboratory University of Minnesota
United States
11
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
329300
  • C Sequence analysis of the entire coding region

Hyperphenylalaninemia Sequencing Panel

PreventionGenetics
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Phenylalanine, Quantitative

Biochemical Genetics Laboratory LabCorp
United States
22
  • A Analyte

PAH. Complete sequencing

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

PAH Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

PAH Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

PAH Comprehensive - Sequence & Deletion/Duplication Analysis

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

PAH Sequence Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Amino Acid Analysis - Plasma

Baylor Genetics
United States
2526
  • A Analyte

Phenylalanine Hydroxylase Deficiency via the PAH Gene

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

Phenylalanine Determination - Plasma

Baylor Genetics
United States
32
  • A Analyte

Phenylketonuria (Monitoring): Phenylalanine and Tyrosine, Quantitative

DLE - Diagnosticos Laboratoriais Especializados
Brazil
22
  • A Analyte
  • E Enzyme assay

Phenylketonuria (PKU): Phenylalanine Hydroxylase (PAH) Full Gene Sequencing

DLE - Diagnosticos Laboratoriais Especializados
Brazil
21
  • C Sequence analysis of the entire coding region

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 68

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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