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Results: 21 to 40 of 77 (representing 42 labs)

Tests names and labsConditionsGenes and analytesMethods

PHENYLKETONURIA

Laboratorio de Genetica Clinica SL
Spain
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Classical Phenylketonuria , Deletions-Duplications (MLPA) PAH Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Classical Phenylketonuria , Sequencing Exons (7,8,11,12) PAH Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Classical Phenylketonuria , Sequencing Rest Exons PAH Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Classical Phenylketonuria , Sequencing PAH Gene

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

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
11692
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neurotransmitter Disorders Panel

Invitae
United States
3327
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperphenylalaninemia Panel

Blueprint Genetics
Finland
35
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14354
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Phenylketonuria (PAH) Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • T Targeted variant analysis

Family Prep Screen

Counsyl
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Disorders Newborn Screening Confirmation Panel

Invitae
United States
11790
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hyperphenylalaninemia Panel

Invitae
United States
76
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated Phenylalanine Panel

Invitae
United States
76
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
136141
  • T Targeted variant analysis

Phenylalanine Hydroxylase Deficiency, includes Phenylketonuria (PAH)

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

Single gene testing PAH

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

CarrierMap

Recombine
United States
300298
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 21 to 40 of 77

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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