Clinical and research tests for C1837461 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CHD7 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	4	1	T Targeted variant analysis
CHD7 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	4	1	T Targeted variant analysis
CHD7 Sequence Analysis Baylor Genetics United States	4	1	C Sequence analysis of the entire coding region
CHD7 Deletion/Duplication Analysis (Prenatal Diagnosis) Baylor Genetics United States	4	1	D Deletion/duplication analysis
CHD7 Deletion/Duplication Analysis Baylor Genetics United States	4	1	D Deletion/duplication analysis
CHD7 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Structural Heart Disease NGS Panel Fulgent Genetics United States	73	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gastrointestinal Atresia NGS Panel Fulgent Genetics United States	27	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
B-Positive Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	38	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	330	90	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHARGE Syndrome (CHD7 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kabuki Syndrome NGS Panel Fulgent Genetics United States	17	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States	244	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Developmental Eye Disease panel Molecular Vision Laboratory United States	107	59	C Sequence analysis of the entire coding region
CHD7 Single Gene Fulgent Genetics United States	3	1	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.