Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Biopsy-based NF1 analysis with reflex to SPRED1, if needed UAB Medical Genomics Laboratory UAB Medicine United States | 2 | 2 |
|
RNA-based NF1 and SPRED1 Comprehensive Testing UAB Medical Genomics Laboratory UAB Medicine United States | 2 | 2 |
|
SPRED1 gene sequence and deletion/duplication Ambry Genetics United States | 1 | 1 |
|
Neurofibromatosis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 6 |
|
Noonan spectrum disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
Neurofibromatosis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 6 |
|
Neurofibromatosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 6 |
|
Noonan spectrum disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
Noonan spectrum disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
PreventionGenetics, part of Exact Sciences United States | 116 | 117 |
|
Hypertrophic Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States | 70 | 68 |
|
Comprehensive Arrhythmia and Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States | 204 | 169 |
|
Neurofibromatosis Type 1 (NF1) and Legius Syndrome Panel PreventionGenetics, part of Exact Sciences United States | 4 | 2 |
|
Invitae Cardiomyopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 198 | 82 |
|
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 239 | 100 |
|
Legius Syndrome via the SPRED1 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Genome Diagnostics Laboratory The Hospital for Sick Children Canada | 14 | 15 |
|
Genome Diagnostics Laboratory The Hospital for Sick Children Canada | 1 | 1 |
|
GeneSeq Cardio Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States | 55 | 177 |
|
GeneSeq® Cardio Single Gene Analysis Integrated Genetics Westborough LabCorp United States | 55 | 177 |
|
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.