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Results: 1 to 20 of 28

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • 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

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
4160
  • C Sequence analysis of the entire coding region

BH4-deficient Hyperphenylalaninemia B (GTP cyclohydrolase 1 deficiency): Full gene sequencing (Rapid testing)

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

GTP CYCLOHYDROLASE 1 DEFICIENCY

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

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

Dystonia Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
2919
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Invitae Hereditary Parkinson's Disease and Parkinsonism Panel

Invitae
United States
1815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GCH1 related disorders

bio.logis Center for Human Genetics
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing GCH1

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Dystonia All Panel

CeGaT GmbH
Germany
4954
  • C Sequence analysis of the entire coding region

Dystonia Plus Syndrome Panel

CeGaT GmbH
Germany
1514
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
147143
  • C Sequence analysis of the entire coding region

Hyperphenylalaninemia, BH4-deficient, B (sequence analysis of GCH1 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

GCH1

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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