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Results: 1 to 20 of 27

Tests names and labsConditionsGenes and analytesMethods

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
93170
  • 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 Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Niemann-Pick Disease Types A and B Panel

Invitae
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Lysosomal Storage Disorders Newborn Screening Panel

Invitae
United States
136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carnitine palmitoyltransferase II deficiency

Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
11
  • A Analyte
  • 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 Niemann-Pick Disease Type C Panel

Invitae
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ISCA2

Fulgent Genetics
United States
131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

C18orf8

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

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Niemann-Pick A/B Disease

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Non-immune Hydrops Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8687
  • C Sequence analysis of the entire coding region

Dystonia All Panel

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

Hereditary Degenerative Syndromes Panel

CeGaT GmbH
Germany
2849
  • C Sequence analysis of the entire coding region

Niemann-Pick Disease (Type A and B): SMPD1 Gene Deletion/Duplication

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
31
  • D Deletion/duplication analysis

Niemann-Pick Disease (Type A and B): SMPD1 Full Gene Sequencing

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
31
  • C Sequence analysis of the entire coding region

epiSEEKĀ® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
630431
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Niemann-Pick disease typa A and B

Laboratory of Human Genetics GENOMED Health Care Center
Poland
31
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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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