Clinical and research tests for C1837501 - 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
ASPM mutation analysis Genetic Services Laboratory University of Chicago United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ASPM - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	161	D Deletion/duplication analysis
Microcephaly 5, primary, autosomal recessive, 608716, Autosomal recessive; MCPH5 (Autosomal recessive primary microcephaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Microcephaly 5, primary, autosomal recessive, 608716, Autosomal recessive; MCPH5 (Autosomal recessive primary microcephaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Microcephaly 5, primary, autosomal recessive, 608716, Autosomal recessive; MCPH5 (Autosomal recessive primary microcephaly) (ASPM 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
Microcephaly 5, primary, autosomal recessive, 608716, Autosomal recessive; MCPH5 (Autosomal recessive primary microcephaly) (ASPM 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
Primary Microcephaly, Autosomal Recessive, via the ASPM Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Primary Microcephaly, Autosomal Recessive, Panel PreventionGenetics, part of Exact Sciences United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain	63	48	C Sequence analysis of the entire coding region
Microcephaly Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	67	48	C Sequence analysis of the entire coding region
Microcephaly, primary autosomal recessive: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	25	25	C Sequence analysis of the entire coding region
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Adolescent/Adult Epilepsy NGS Panel Fulgent Genetics United States	182	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.