Clinical and research tests for C0234629 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
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
Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States	185	53	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
SLC52A2 Single Gene Fulgent Genetics United States	46	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPRY4 Single Gene Fulgent Genetics United States	38	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TTLL5 Single Gene Fulgent Genetics United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
POC1B Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HS6ST1 Single Gene Fulgent Genetics United States	41	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IMPG1 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IL17RD Single Gene Fulgent Genetics United States	44	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PCYT1A Single Gene Fulgent Genetics United States	34	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DRAM2 Single Gene Fulgent Genetics United States	9	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DUSP6 Single Gene Fulgent Genetics United States	40	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FGF17 Single Gene Fulgent Genetics United States	40	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FEZF1 Single Gene Fulgent Genetics United States	41	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FLRT3 Single Gene Fulgent Genetics United States	39	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.