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Results: 1 to 20 of 68 (representing 35 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

Rasopathies NGS Panel

Health in Code S.L.
Spain
2612
  • C Sequence analysis of the entire coding region

Expanded RASopathy Panel (14 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Legius syndrome

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

NF1/SPRED1 Next Generation Sequencing and Deletion/Duplication

Medical Genomics Laboratory Department of Genetics UAB
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RASopathy Next Generation Sequencing and Deletion/Duplication

Medical Genomics Laboratory Department of Genetics UAB
United States
815
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Non-NF1 RASopathy Next Generation Sequencing and Deletion/Duplication

Medical Genomics Laboratory Department of Genetics UAB
United States
715
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel

PreventionGenetics
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RASOPATHY-RELATED SYNDROME

Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute
Spain
919
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

SPRED1. MLPA testing

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

SPRED1. Complete sequencing

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

PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, HRAS, SPRED1, SHOC2, CBL, MAP2K1, MAP2K2. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
1311
  • C Sequence analysis of the entire coding region

Legius Syndrome (SPRED1) Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics
United States
11
  • D Deletion/duplication analysis

Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Legius Syndrome via the SPRED1 Gene

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

Legius Syndrome - SPRED1 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

SPRED1 Sequencing and Deletion/Duplication on Blood

Medical Genomics Laboratory Department of Genetics UAB
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NEUROFIBROMATOSIS TYPE 1 - NF1 gene

Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute
Spain
22
  • D Deletion/duplication analysis
  • L Linkage analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Neurofibromatosis Type 1 (NF1)

Medical Genomics Laboratory Department of Genetics UAB
United States
21
  • 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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