Clinical and research tests for C3887499 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	505	132	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
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cystic Kidney Disease Panel Blueprint Genetics Finland	3	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polycystic Kidney Disease Panel Blueprint Genetics Finland	3	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Meckel Syndrome Panel Blueprint Genetics Finland	2	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ciliopathy Panel Blueprint Genetics Finland	6	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PUF60 Single Gene Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PIGT Single Gene Fulgent Genetics United States	43	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
B4GAT1 Single Gene Fulgent Genetics United States	45	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel Fulgent Genetics United States	67	13	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
Retinitis Pigmentosa NGS Panel Fulgent Genetics United States	329	124	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular NGS Panel Fulgent Genetics United States	259	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Joubert and Meckel NGS Panel Fulgent Genetics United States	110	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Eye Disorders NGS Panel Fulgent Genetics United States	1018	459	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Muscular Dystrophies NGS Panel Fulgent Genetics United States	125	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.