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Results: 1 to 20 of 68 (representing 34 labs)

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

Niemann-Pick disease type A/B

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

qCarrier Plus

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

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
United States
115
  • T Targeted variant analysis

Ashkenazic Genetic Disease Screen (with Cystic Fibrosis)

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

MitoMet®Plus aCGH Analysis

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

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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
United States
21
  • E Enzyme assay

Sphingomyelinase Enzyme Assay

Baylor Miraca Genetics Laboratories
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

Niemann-Pick Disease Type A , Sequencing SMPD1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

GeneAware ACMG/ACOG Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
1915
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware Ashkenazi Jewish Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
4437
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware ACMG/ACOG Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
1613
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 68

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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