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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

Wolman disease

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

Next Generation Sequencing for Jaundice Associated Genes Variation Test

National Taiwan University Hospital A1 Center National Taiwan University Hospital
Taiwan
473
  • C Sequence analysis of the entire coding region

LALD

Neurogenetics DNA Diagnostic Laboratory Massachusetts General Hospital
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Familial hypercholesterolemia Extended Panel

Health in Code
Spain
123
  • C Sequence analysis of the entire coding region

Dyslipidemias / Early atherosclerosis

Health in Code
Spain
184
  • C Sequence analysis of the entire coding region

Cardiovascular Diseases_General Panel

Health in Code
Spain
1380
  • C Sequence analysis of the entire coding region

LIPA. Complete sequencing

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

LIPA Sequence Analysis (Prenatal Diagnosis)

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

LIPA Sequence Analysis (Familial Mutation/Variant Analysis)

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

LIPA Sequence Analysis

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

Wolman Disease and Cholesteryl Ester Storage Disease via the LIPA Gene

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

Lysosomal Storage Disease

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

Cholesteryl ester storage disease (sequence analysis of LIPA gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

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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