Clinical and research tests for 603066 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	195	92	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lysyl hydroxylase 3 deficiency, 612394, Autosomal recessive (Connective tissue disorder due to lysyl hydroxylase-3 deficiency) (PLOD3 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
Lysyl hydroxylase 3 deficiency, 612394, Autosomal recessive (Connective tissue disorder due to lysyl hydroxylase-3 deficiency) (PLOD3 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
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
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
Low Bone Mass Panel (MitomeNGS) Baylor Genetics United States	39	22	C Sequence analysis of the entire coding region
Stickler Syndrome Panel PreventionGenetics, part of Exact Sciences United States	30	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connective Tissue Disorders Panel Baylor Genetics United States	1	92	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
Stickler Syndrome Gene Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	39	13	C Sequence analysis of the entire coding region
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
Comprehensive Eye panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	695	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
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
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective tissue / Aortopathies panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	35	35	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.