Clinical and research tests for C1837501 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 46

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Adolescent/Adult Epilepsy NGS Panel Fulgent Genetics United States	182	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Reference Laboratory Genetics Spain	41	38	C Sequence analysis of the entire coding region
Autosomal Recessive Primary Microcephaly , Panel Massive Sequencing (NGS) 8 Genes Reference Laboratory Genetics Spain	8	8	C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	233	234	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Athena Diagnostics United States	43	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Athena Diagnostics United States	80	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ASPM Sequencing Test Athena Diagnostics United States	1	1	C Sequence analysis of the entire coding region
Primary Microcephaly Sequencing Evaluation Athena Diagnostics United States	3	3	C Sequence analysis of the entire coding region
PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) Laboratorio de Genetica Clinica SL Spain	13	13	C Sequence analysis of the entire coding region
Autosomal Recessive Primary Microcephaly Type 5 , Deletions-Duplications (MLPA) ASPM Gene Reference Laboratory Genetics Spain	1	1	D Deletion/duplication analysis
Autosomal Recessive Primary Microcephaly Type 5 , Sequencing ASPM Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Brain malformations Asper Biogene Asper Biogene LLC Estonia	318	252	C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephaly Asper Biogene Asper Biogene LLC Estonia	111	96	C Sequence analysis of the entire coding region
Microcephaly 5, primary, autosomal recessive Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing ASPM CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Microcephaly and Pontocerebellar Hypoplasia Panel CeGaT GmbH Germany	38	36	C Sequence analysis of the entire coding region
Microcephaly and Pontocerebellar Hypoplasia Panel CeGaT GmbH Germany	38	36	C Sequence analysis of the entire coding region
Microcephaly 5, primary, autosomal recessive (MCPH5, ASPM) MVZ Dr. Eberhard & Partner Dortmund Germany	1	1	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 46

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.