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Results: 1 to 20 of 53

Tests names and labsConditionsGenes, analytes, and microbesMethods

SPR - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Parkinson Disease Panel

Centogene AG - the Rare Disease Company
Germany
7876
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Parkinson Disease and Parkinsonism Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4426
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
638419
  • D Deletion/duplication analysis

Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, Autosomal dominant, Autosomal recessive (Dopa-responsive dystonia due to sepiapterin reductase deficiency) (SPR 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

Labcorp Genetics (formerly Invitae) LabCorp
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Parkinson Disease and Parkinsonism Panel

PreventionGenetics, part of Exact Sciences
United States
6870
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neurotransmitter Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5244
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia Panel

PreventionGenetics, part of Exact Sciences
United States
1717
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Parkinson Disease Panel

PreventionGenetics, part of Exact Sciences
United States
2724
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Newborn Screening Confirmation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 53

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.