Clinical and research tests for C3151461 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microcephaly Panel Genetic Services Laboratory University of Chicago United States	72	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NDE1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	161	D Deletion/duplication analysis
Lissencephaly Panel PreventionGenetics, part of Exact Sciences United States	29	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly 4 (with microcephaly), 614019, Autosomal recessive; LIS4 (Microlissencephaly) (NDE1 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
Lissencephaly 4 (with microcephaly), 614019, Autosomal recessive; LIS4 (Microlissencephaly) (NDE1 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
Brain Malformation Panel PreventionGenetics, part of Exact Sciences United States	79	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly-4 with Microcephaly via the NDE1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly core NGS test HNL Genomics Connective Tissue Gene Tests United States	11	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly core Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	11	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly core Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	11	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lissencephaly and related disorders Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly and related disorders Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lissencephaly and related disorders NGS test HNL Genomics Connective Tissue Gene Tests United States	46	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States	37	131	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Polymicrogyria panel. 17-gene NGS panel. Genologica Medica Spain	22	17	C Sequence analysis of the entire coding region
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain	63	48	C Sequence analysis of the entire coding region
Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain	110	57	C Sequence analysis of the entire coding region
Comprehensive Brain Malformations Panel GeneDx United States	19	103	D Deletion/duplication analysis E Sequence analysis of select exons

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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.