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Results: 1 to 20 of 106 (representing 42 labs)

Tests names and labsConditionsGenes and analytesMethods

Expanded RASopathy Panel (14 Genes)

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

Neurofibromatosis type I

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

Neurofibromatosis type I

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

Neurofibromatosis type I

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

Neurofibromatosis type I

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

PulmoGene Panel (64 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
6964
  • 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

Peripheral Nerve Sheath Tumor NGS panel

Medical Genomics Laboratory Department of Genetics UAB
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BrainTumorNext

Ambry Genetics
United States
7727
  • 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

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

Neurofibromatosis type 1 (NF1 with reflex to SPRED1)

Ambry Genetics
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Juvenile Myelomonocytic Leukemia

UCSF Molecular Diagnostics Laboratory University of California, San Francisco
United States
59
  • C Sequence analysis of the entire coding region

Hereditary Pheochromocytoma and Paraganglioma Panel

Genetic Services Laboratory University of Chicago
United States
1014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel

Genetic Services Laboratory University of Chicago
United States
1114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tier 2: Hereditary Lymphoma Panel

Genetic Services Laboratory University of Chicago
United States
1114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NF1. NextGeneDx.Complete sequencing by NGS

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

NF1. Complete sequencing

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

NF1. MLPA testing

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

Results: 1 to 20 of 106

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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