Clinical and research tests for C0020538 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Non-syndromic Monogenic Obesity Panel Genetic Services Laboratory University of Chicago United States	8	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Riboflavin Transporter Deficiency Neuronopathy NGS Panel Fulgent Genetics United States	48	2	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
Glucocorticoid Deficiency NGS Panel Fulgent Genetics United States	19	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	505	132	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel Fulgent Genetics United States	188	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States	185	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Scalp-Ear-Nipple Syndrome (KCTD1 Single Gene Test) Fulgent Genetics United States	48	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Adrenal Hyperplasia NGS Panel Fulgent Genetics United States	32	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC52A2 Single Gene Fulgent Genetics United States	46	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IFT27 Single Gene Fulgent Genetics United States	30	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KCTD1 Single Gene Fulgent Genetics United States	48	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IFT172 Single Gene Fulgent Genetics United States	85	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ARMC5 Single Gene Fulgent Genetics United States	19	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LRIG2 Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NR3C1 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PDE3A Single Gene Fulgent Genetics United States	8	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.