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Results: 21 to 40 of 125

Tests names and labsConditionsGenes, analytes, and microbesMethods

Phenylketonuria, 261600, Autosomal recessive; PKU (Phenylketonuria) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Phenylketonuria, 261600, Autosomal recessive; PKU (Phenylketonuria) (PAH gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Phenylketonuria, 261600, Autosomal recessive; PKU (Phenylketonuria) (PAH gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Phenylketonuria, 261600, Autosomal recessive; PKU (Phenylketonuria) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

[Hyperphenylalaninemia, non-PKU mild], 261600, Autosomal recessive (Phenylketonuria) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

[Hyperphenylalaninemia, non-PKU mild], 261600, Autosomal recessive (Phenylketonuria) (PAH gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen without X-linked Disorders

Invitae
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Invitae
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Phenylalanine Hydroxylase Deficiency

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

PAH - Phenylketonuria

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Phenylketonuria (Biochemical genetic testing)

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
12
  • A Analyte

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel

Invitae
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperphenylalaninemia Panel

PreventionGenetics, part of Exact Sciences
United States
66
  • 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 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

Results: 21 to 40 of 125

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.