Clinical and research tests for 607785 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 20 of 157

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
CLP1 Gene Pontocerebellar hypoplasia, type 10 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Noonan Syndrome and Related Panel Mayo Clinic Laboratories Mayo Clinic United States	15	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RASopathy NGS Panel Medical Genomics Laboratory Department of Genetics UAB United States	8	18	D Deletion/duplication analysis E Sequence analysis of select exons
Non-NF1 RASopathy NGS Panel Medical Genomics Laboratory Department of Genetics UAB United States	7	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rasopathies NGS Panel Health in Code Spain	26	12	C Sequence analysis of the entire coding region
NOONAN SYNDROME Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	5	16	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
RASOPATHY-RELATED SYNDROME Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	9	19	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR PathGroup United States	16	160	T Targeted variant analysis
UCSF Molecular Diagnostics Laboratory UCSF Molecular Diagnostics Laboratory University of California, San Francisco United States	4	52	C Sequence analysis of the entire coding region
CentoCancer Centogene AG - the Rare Disease Company Germany	113	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	155	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
Myeloid Tumor Panel Centogene AG - the Rare Disease Company Germany	74	34	C Sequence analysis of the entire coding region
NF1 - MLPA Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication 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.