Clinical and research tests for C1836047 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Cleft Palate/Lip NGS Panel Fulgent Genetics United States	127	23	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
Kaufman Oculocerebrofacial Syndrome (UBE3B Single Gene Test) Fulgent Genetics United States	52	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
TCTN3 Single Gene Fulgent Genetics United States	85	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ZNF423 Single Gene Fulgent Genetics United States	35	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
UBE3B Single Gene Fulgent Genetics United States	52	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
POC1A Single Gene Fulgent Genetics United States	37	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HIRA Single Gene Fulgent Genetics United States	85	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
INPP5E Single Gene Fulgent Genetics United States	72	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HNRNPK Single Gene Fulgent Genetics United States	30	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ARVCF Single Gene Fulgent Genetics United States	85	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MID2 Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MEIS2 Single Gene Fulgent Genetics United States	25	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHAMP1 Single Gene Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PDE6D Single Gene Fulgent Genetics United States	42	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 1 to 20 of 24

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.