Clinical and research tests for C0431401 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 47

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Ectopia Lentis NGS Panel Fulgent Genetics United States	49	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuro-Ophthalmic Disorders NGS Panel Fulgent Genetics United States	52	26	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
Gillespie Syndrome (PAX6 Single Gene Test) Fulgent Genetics United States	8	1	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
Axenfeld-Rieger NGS Panel Fulgent Genetics United States	13	3	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
Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States	244	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia, Complete Dominant Evaluation Athena Diagnostics United States	31	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia, Supplemental Dominant Evaluation Athena Diagnostics United States	22	16	C Sequence analysis of the entire coding region
Ataxia, Comprehensive Evaluation Athena Diagnostics United States	44	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Septo-optic dysplasia Molecular Vision Laboratory United States	12	4	C Sequence analysis of the entire coding region
Invitae Cataracts Panel Invitae United States	46	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia, autosomal dominant and X-linked Panel CeGaT GmbH Germany	12	34	C Sequence analysis of the entire coding region
PAX6 MVZ Dr. Eberhard & Partner Dortmund Germany	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing PAX6 CeGaT GmbH Germany	8	1	C Sequence analysis of the entire coding region
Ataxia and differential diagnoses Panel CeGaT GmbH Germany	173	204	C Sequence analysis of the entire coding region
Developmental Eye Disease panel Molecular Vision Laboratory United States	107	59	C Sequence analysis of the entire coding region
PAX6 Single Gene Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 47

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.