Clinical and research tests for C0032339 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	109	99	X Mutation scanning of select exons
PREVENTEST GeneID Lab - Advanced Molecular Diagnostics United States	60	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	161	174	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progeroid syndromes and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeroid syndromes and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progeroid syndromes and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	21	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States	103	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
RECQL4 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region
RECQL4 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
RECQL4 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region
Rothmund Thomson Syndrome via the RECQL4 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chromosomal Instability Syndromes Panel PreventionGenetics, part of Exact Sciences United States	10	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Cancer Panel Dhiti Omics Technologies Private Ltd India	135	84	C Sequence analysis of the entire coding region
RAPADILINO Syndrome (RECQL4 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeria Syndrome NGS Panel Fulgent Genetics United States	42	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	473	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rothmund-Thomson Syndrome (RECQL4 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Baller-Gerold Syndrome (RECQL4 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis NGS Panel Fulgent Genetics United States	339	61	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.