Clinical and research tests for 604321 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microcephaly 4, primary, autosomal recessive, 604321, Autosomal recessive; MCPH4 (Autosomal recessive primary microcephaly) (KNL1 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
Microcephaly 4, primary, autosomal recessive, 604321, Autosomal recessive; MCPH4 (Autosomal recessive primary microcephaly) (KNL1 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
ZNF783 Gene Prostate cancer NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Microcephaly Panel Genetic Services Laboratory University of Chicago United States	72	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CEP152 Gene Microcephaly, autosomal recessive type 9 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CEP152 Gene Seckel syndrome type 5 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Primordial Dwarfism Panel Genetic Services Laboratory University of Chicago United States	18	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CEP152 - 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
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
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States	48	38	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism NGS panel HNL Genomics Connective Tissue Gene Tests United States	23	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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