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Results: 1 to 20 of 61

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

FamilyReady Carrier Screen (204 Genes/400+ Disorders)

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

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

Plasma Chitotriosidase

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
31
  • E Enzyme assay

Liver and Spleen panel

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

Niemann Pick Disease A and B

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
21
  • E Enzyme assay

Interstitial Lung Disease Sequencing Panel

PreventionGenetics
United States
2624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SMPD1. Complete sequencing

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

SMPD1. Detection of the mutations p.Arg498Leu, p.Leu304Pro, p.Phe333SerfsX52 and p.Arg610del by sequencing

Instituto de Medicina Genomica
Spain
21
  • T Targeted variant analysis

Ashkenazic Genetic Disease Screen (without Cystic Fibrosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
115
  • T Targeted variant analysis

Ashkenazic Genetic Disease Screen (with Cystic Fibrosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
125
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

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

Niemann-Pick Disease Types A and B via the SMPD1 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Sphingomyelinase Enzyme Assay

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • E Enzyme assay

Sphingomyelinase Enzyme Assay

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • E Enzyme assay

SMPD1 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
31
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease

Asper Biogene Asper Biogene LLC
Estonia
7050
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 61

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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