Clinical and research tests for GPSM2 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GPSM2 Gene Chudley-McCullough syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	287	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	123	129	E Sequence analysis of select exons
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States	1	318	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
AudioloGene Hearing Loss Panel Mayo Clinic Laboratories Mayo Clinic United States	1	200	C Sequence analysis of the entire coding region
GPSM2 - 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
CentoHear Panel Centogene AG - the Rare Disease Company Germany	203	194	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 Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	405	219	D Deletion/duplication analysis
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	161	D Deletion/duplication analysis
Epilepsy Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	1	166	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hydrocephalus Panel PreventionGenetics, part of Exact Sciences United States	41	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chudley-McCullough syndrome, 604213, Autosomal recessive; CMCS (Chudley-McCullough syndrome) (GPSM2 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
Chudley-McCullough syndrome, 604213, Autosomal recessive; CMCS (Chudley-McCullough syndrome) (GPSM2 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
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	362	227	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 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
Macrocephaly Panel Genetic Services Laboratory University of Chicago United States	26	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OtoGenome Test for Hearing Loss (110 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	23	109	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.