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Results: 1 to 20 of 75 (representing 42 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Center
Canada
7850
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ARSA Gene, Full Gene Analysis

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
11
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Metachromatic Leukodystrophy

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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
329300
  • -- Sequence analysis of the entire coding region

Comprehensive Neurogenetics Panel (359 genes)

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

ARSA. Detection of the mutations c.459 1G>A, c.1204 1G>A, p.Pro426Leu and p.Ile179Ser by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

ARSA. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

ARSA Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

ARSA Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

ARSA Sequence Analysis

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

Metachromatic Leukodystrophy via the ARSA Gene

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

Arylsulfatase A Enzyme Analysis

Baylor Genetics
United States
21
  • E Enzyme assay

Arylsulfatase A Enzyme Analysis

Baylor Genetics
United States
21
  • E Enzyme assay

Metachromatic Leukodystrophy Sequencing Panel

PreventionGenetics
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arylsulfatase A Deficiency

Biochemical Genetics Laboratory LabCorp
United States
11
  • E Enzyme assay

NGS Neurodegenerative disorders Multi-Gene Panel (60 genes)

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
4160
  • -- Sequence analysis of the entire coding region

Results: 1 to 20 of 75

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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