Clinical and research tests for C0349639 - Genetic Testing Registry (GTR) - NCBI

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Results: 41 to 60 of 152

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	266	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Juvenile myelomonocytic leukemia, 607785, Autosomal dominant, Somatic mutation (Juvenile myelomonocytic leukemia) (CBL gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Leukemia, juvenile myelomonocytic, somatic, 607785 (Juvenile myelomonocytic leukemia) (ARHGAP26 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Leukemia, juvenile myelomonocytic, somatic, 607785 (Juvenile myelomonocytic leukemia) (PTPN11 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Leukemia, juvenile myelomonocytic, 607785, Autosomal dominant, Somatic mutation; JMML (Juvenile myelomonocytic leukemia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Leukemia, juvenile myelomonocytic, 607785, Autosomal dominant, Somatic mutation; JMML (Juvenile myelomonocytic leukemia) (NF1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563, Autosomal dominant; NSLL (Noonan syndrome-like disorder with juvenile myelomonocytic leukemia) (CBL gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive HemeComplete Profile with IGH Somatic Hypermutation PathGroup United States	13	161	E Sequence analysis of select exons T Targeted variant analysis
HemeComplete NextGen Sequencing Assay with Calreticulin Exon 9 Mutation, FLT3 ITD and TKD Analysis and T-Cell Clonality Analysis PathGroup United States	23	160	T Targeted variant analysis
HemeComplete NextGen Sequencing Assay with Calreticulin Exon 9 Mutation, FLT3 ITD and TKD Analysis and JAK2 V617F Quant PathGroup United States	18	160	T Targeted variant analysis
Comprehensive HemeComplete Profile + CALR PCR + FLT3 PCR + BCR/ABL1 IS PathGroup United States	17	160	T Targeted variant analysis
Comprehensive HemeComplete Profile + CALR PCR + FLT3 PCR + BCR/ABL1 PathGroup United States	17	160	T Targeted variant analysis
Comprehensive HemeComplete Profile + CALR PCR + FLT3 PCR PathGroup United States	16	160	T Targeted variant analysis
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Labcorp Genetics (formerly Invitae) LabCorp United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	162	129	C Sequence analysis of the entire coding region
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.