Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 114

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7850
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Ashkenazi panel (basic)

Centogene AG - the Rare Disease Company
Germany
26
  • T Targeted variant analysis

Tay-Sachs disease

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

FamilyReady Carrier Screen (204 Genes/400+ Disorders)

EvolveGene
United States
204156
  • C Sequence analysis of the entire coding region

DonorReady Carrier Screen (47 Genes)

EvolveGene
United States
3433
  • C Sequence analysis of the entire coding region

Tay-Sachs: HexA gene sequencing

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
11
  • S Mutation scanning of the entire coding region

Tay-Sachs disease

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

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

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

Cherry red spot and Neuroregression panel

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

Neurodegenerative panel

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
66
  • E Enzyme assay

Tay Sach disease

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
11
  • E Enzyme assay

Ataxia Exome Panel

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

Tay-Sachs Disease via the French Canadian Deletion in the HEXA Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Tay-Sachs Disease, DNA Analysis

Molecular Diagnostic Laboratory LabCorp
United States
11
  • T Targeted variant analysis

HEXA. Detection of the mutations c.1274_1277dupTATC, c.1421 1G>C, c.1073 1G>A, p.Gly269Ser, p.Arg247Trp and p.Arg249Trpby sequencing

Instituto de Medicina Genomica
Spain
21
  • T Targeted variant analysis

HEXA. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • 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.

Support Center