Clinical and research tests for C0410530 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CMNext® Ambry Genetics United States	138	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CardioNext® Ambry Genetics United States	189	92	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Myelodysplastic Syndrome/Leukemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	76	32	D Deletion/duplication analysis
Invitae Congenital Heart Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	107	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
PTPN11 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	4	1	T Targeted variant analysis
PTPN11 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	4	1	T Targeted variant analysis
PTPN11 Sequence Analysis Baylor Genetics United States	4	1	C Sequence analysis of the entire coding region
PTPN11-Related Disorders via the PTPN11 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary pediatric cancer panel. NGS panel of 71 genes. Genologica Medica Spain	158	71	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
Panel of exostoses and related disorders. Panel NGS genes: EXT1, EXT2, PTPN11. Genologica Medica Spain	8	3	C Sequence analysis of the entire coding region
Neurofibromatosis panel. 8-gene NGS panel. Genologica Medica Spain	25	8	C Sequence analysis of the entire coding region
Hereditary leukemia panel. NGS panel of 39 genes. Genologica Medica Spain	89	39	C Sequence analysis of the entire coding region
Noonan syndrome panel. NGS panel of 22 genes. Genologica Medica Spain	48	22	C Sequence analysis of the entire coding region
PTPN11 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	3	1	D Deletion/duplication analysis
Comprehensive Short Stature Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	82	60	C Sequence analysis of the entire coding region
Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	210	139	C Sequence analysis of the entire coding region
Arrhythmia & Cardiomyopathy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	211	93	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 65

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.