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Results: 1 to 20 of 86

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

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7950
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Tay-Sachs Disease, DNA Analysis

Molecular Diagnostic Laboratory LabCorp
United States
10
  • T Targeted variant analysis

Comprehensive Neurogenetics Panel (359 genes)

Sherbrooke Genomic Medicine
Canada
6035
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

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

GM2A. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

Tay - Sachs Disease Ashkenazic Mutation Panel

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region

HEXA Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

HEXA Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

HEXA Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region

Ashkenazic Genetic Disease Panel

Baylor Miraca Genetics Laboratories
United States
74
  • S Mutation scanning of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Tay-Sachs Disease via the HEXA Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hexosaminidase A & B Enzyme Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • E Enzyme assay

Tay Sachs Disease, Biochemical, Serum

Biochemical Genetics Laboratory LabCorp
United States
31
  • E Enzyme assay

Results: 1 to 20 of 86

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.