Clinical and research tests for C0423109 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital Cataracts NGS Panel Fulgent Genetics United States	106	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	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
Hypomagnesemia NGS Panel Fulgent Genetics United States	121	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Robinow Syndrome NGS Panel Fulgent Genetics United States	76	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carpenter Syndrome NGS Panel Fulgent Genetics United States	45	2	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
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
ABCD3 Single Gene Fulgent Genetics United States	47	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AHDC1 Single Gene Fulgent Genetics United States	22	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PYCR2 Single Gene Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RDH11 Single Gene Fulgent Genetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SETD5 Single Gene Fulgent Genetics United States	18	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TBX6 Single Gene Fulgent Genetics United States	27	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
THOC6 Single Gene Fulgent Genetics United States	19	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
UBE2T Single Gene Fulgent Genetics United States	80	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
HIRA Single Gene Fulgent Genetics United States	85	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
C2CD3 Single Gene Fulgent Genetics United States	17	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.