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Results: 1 to 20 of 114

Tests names and labsConditionsGenes, analytes, and microbesMethods

Lysosomal diseases panel

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
5718
  • E Enzyme assay

Lysosomal/Peroxisomal D/O Scrn, BS

Mayo Clinic Laboratories Mayo Clinic
United States
910
  • A Analyte

Hepatosplenomegaly Panel, Plasma

Mayo Clinic Laboratories Mayo Clinic
United States
51
  • A Analyte

Hepatosplenomegaly Panel, Blood Spot

Mayo Clinic Laboratories Mayo Clinic
United States
53
  • A Analyte

Acid Sphingomyelinase, Leukocytes

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • E Enzyme assay

Oxysterols, B

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

Oxysterols, BS

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

Oxysterols, P

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • A Analyte

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
2423
  • E Enzyme assay

Plasma Chitotriosidase

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
31
  • E Enzyme assay

Liver and Spleen panel

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
76
  • E Enzyme assay

Cherry red spot and Neuroregression panel

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
76
  • E Enzyme assay

Niemann Pick Disease A and B

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
21
  • E Enzyme assay

CentoMetabolic MOx

Centogene US, LLC - The Rare Disease Company
United States
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene US, LLC - The Rare Disease Company
United States
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoICU Panel

Centogene US, LLC - The Rare Disease Company
United States
829848
  • C Sequence analysis of the entire coding region

CentoIEM Panel

Centogene US, LLC - The Rare Disease Company
United States
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene US, LLC - The Rare Disease Company
United States
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene US, LLC - The Rare Disease Company
United States
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Parkinson Disease Panel

Centogene US, LLC - The Rare Disease Company
United States
7876
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 114

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.