Clinical and research tests for PAX1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
SCID Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	65	50	C Sequence analysis 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
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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Otofaciocervical syndrome 2, 615560, Autosomal recessive; OTFCS2 (Otofaciocervical syndrome) (PAX1 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
Otofaciocervical syndrome 2, 615560, Autosomal recessive; OTFCS2 (Otofaciocervical syndrome) (PAX1 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
Klippel-Feil Syndrome Panel PreventionGenetics, part of Exact Sciences United States	9	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	C Sequence analysis of the entire coding region
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Deafness or hypoacusis panel_v.2.0 CGC Genetics Unilabs Portugal	1	272	C Sequence analysis of the entire coding region
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Otofaciocervical syndrome (sequence analysis of PAX1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Otofaciocervical syndrome (deletion/duplication analysis of PAX1 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
MACROCEPHALY AND OVERGROWTH SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	80	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons 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.