Clinical and research tests for 4040 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hypertriglyceridemia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	16	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypercholesterolemia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	10	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GenepoweRx_Cardiac Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	63	102	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
Invitae Comprehensive Lipidemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	33	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tooth agenesis, selective, 7, 616724, Autosomal dominant; STHAG7 (Oligodontia) (LRP6 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
Coronary artery disease, autosomal dominant, 2, 610947, Autosomal dominant (LRP6 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
Oligodontia - Selective tooth agenesis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oligodontia - Selective tooth agenesis NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oligodontia - Selective tooth agenesis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Dyslipidemia (WES based NGS panel of 25 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	25	C Sequence analysis of the entire coding region
SUDDEN DEATH/ IDIOPATHIC VENTRICULAR FIBRILLATION EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	394	E Sequence analysis of select exons
ECTODERMAL DYSPLASIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	110	E Sequence analysis of select exons
Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain	60	23	C Sequence analysis of the entire coding region
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
Familial hypercholesterolemia panel. 16-gene NGS panel. Genologica Medica Spain	20	16	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
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis 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

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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.