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Results: 1 to 20 of 252

Tests names and labsConditionsGenes, analytes, and microbesMethods

DSP Gene Cardiomyopathy, dilated with woolly hair and keratoderma NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Gaucher Disease

Molecular Genetics Laboratory Genetrack Biolabs Inc.
Canada
11
  • T Targeted variant analysis

Gaucher disease

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

Gaucher`s Disease

Laboratory of Human Genetics GENOMED Health Care Center
Poland
11
  • E Sequence analysis of select exons

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

GBA Gene Gaucher disease type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

GBA Gene Gaucher disease type 2 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

GBA Gene Gaucher disease type 3 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

GBA Gene Gaucher disease type 3C NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

GBA Gene Gaucher disease, perinatal lethal NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

GBA Gene Lewy body dementia, susceptibility to NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Parkinson Disease Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Gaucher disease (GBA gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • C Sequence analysis of the entire coding region

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7750
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195205
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoLSD MOx

Centogene AG - the Rare Disease Company
Germany
1222
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoSphingo MOx

Centogene AG - the Rare Disease Company
Germany
1013
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GBA - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 252

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.