Clinical and research tests for C0796237 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
qChip 1M Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 60k post-natal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 400 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 60k prenatal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
PAK3 - 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
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Mental retardation, X-linked 30/47, 300558, X-linked recessive; MRX30 (X-linked non-syndromic intellectual disability) (PAK3 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
Mental retardation, X-linked 30/47, 300558, X-linked recessive; MRX30 (X-linked non-syndromic intellectual disability) (PAK3 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
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability via the PAK3 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
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain	143	99	C Sequence analysis of the entire coding region
Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	136	90	C Sequence analysis of the entire coding region
Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	210	139	C Sequence analysis of the entire coding region
Mental retardation, nonsyndromic, X-linked: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	32	31	C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Athena Diagnostics United States	57	56	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.