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Results: 1 to 20 of 56

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

DonorReady Screen (custom design with any combination of 204 genes)

EvolveGene
United States
326204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EvolveGene
United States
326204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • 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

Mucopolysaccharidosis type IVA

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

Urine GAG study for MPS (Qualitative and Quantitative)

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
81
  • A Analyte

Morquio-A: GALNS 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

Morquio-A: Common mutation

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

Mucopolysaccharide enzyme panel

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
88
  • E Enzyme assay

Morquio syndrome A

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

qCarrier Plus

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

Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection

PreventionGenetics
United States
3840
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GALNS. Complete sequencing

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

GALNS Sequence Analysis (Prenatal Diagnosis)

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

GALNS Sequence Analysis (Familial Mutation/Variant Analysis)

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

GALNS Sequence Analysis

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

MitoMet®Plus aCGH Analysis

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

Mucopolysaccharidosis Type IVA / Morquio Type A Disease via the GALNS Gene

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

Results: 1 to 20 of 56

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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