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Results: 1 to 20 of 114 (representing 41 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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • 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

PulmoGene Panel (64 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
6964
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystic Lung Disease Panel (8 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TSC1

Neurogenetics DNA Diagnostic Laboratory Massachusetts General Hospital
United States
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • T Targeted variant analysis

BrainTumorNext

Ambry Genetics
United States
7727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiRapid

Ambry Genetics
United States
3916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ExomePLUS Cystic Disease & Dysplasia/Agenesis

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2122
  • C Sequence analysis of the entire coding region

Exome PLUS Proteinuria/FSGS & Hematuria

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2932
  • C Sequence analysis of the entire coding region

Tuberous Sclerosis Complex NGS panel

Medical Genomics Laboratory Department of Genetics UAB
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TSC panel

National Taiwan University Hospital A1 Center National Taiwan University Hospital
Taiwan
43
  • C Sequence analysis of the entire coding region

Epilepsy Panel - Comprehensive

Molecular Genetics Laboratory London Health Sciences Centre
Canada
6969
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

EpiFirst - IS

Ambry Genetics
United States
1715
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tuberous Sclerosis Complex Sequencing and Deletion/Duplication Panel

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

TUBEROUS SCLEROSIS

Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute
Spain
32
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

TSC1. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

TSC1, TSC2. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
22
  • C Sequence analysis of the entire coding region

TSC1. Complete sequencing

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

Results: 1 to 20 of 114

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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