Clinical and research tests for C1969623 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 88

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	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RNA-based NF1 and SPRED1 Comprehensive Testing UAB Medical Genomics Laboratory UAB Medicine United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPRED1 gene sequence and deletion/duplication Ambry Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurofibromatosis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan spectrum disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Neurofibromatosis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neurofibromatosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan spectrum disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan spectrum disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neurofibromatosis Type 1 and Legius Syndrome Panel PreventionGenetics, part of Exact Sciences United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Cardiomyopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	198	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	239	100	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Legius Syndrome via the SPRED1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneSeq® Cardio Single Gene Analysis Integrated Genetics Westborough LabCorp United States	55	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPRED1 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	1	1	D Deletion/duplication analysis
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
GeneSeq® Cardio: Noonan Syndrome/RASopathies Panel Integrated Genetics Westborough LabCorp United States	6	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.