Clinical and research tests for CC2D1A - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CC2D1A Gene Mental retardation, autosomal recessive type 3 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CC2D1A - 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
Intellectual Disability exome Genetic Services Laboratory University of Chicago United States	6	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mental retardation, autosomal recessive 3, 608443, Autosomal recessive; MRT3 (Autosomal recessive non-syndromic intellectual disability) (CC2D1A 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
Mental retardation, autosomal recessive 3, 608443, Autosomal recessive; MRT3 (Autosomal recessive non-syndromic intellectual disability) (CC2D1A 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Non-Specific Intellectual Disability Panel Genetic Services Laboratory University of Chicago United States	6	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autosomal Recessive Non-Specific Intellectual Disability Panel Genetic Services Laboratory University of Chicago United States	1	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurodevelopmental Disorders Panel Baylor Genetics United States	1	236	C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1307	C Sequence analysis of the entire coding region
Autism Spectrum Disorders Panel CGC Genetics Unilabs Portugal	1	107	C Sequence analysis of the entire coding region
Mental retardation, autosomal recessive 3 (deletion/duplication analysis of CC2D1A gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Mental retardation type 3 AR (sequence analysis of CC2D1A gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons

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