Clinical and research tests for C0796016 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 45

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microphthalmia, syndromic type 1 (sequence analysis of NAA10 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	136	90	C Sequence analysis of the entire coding region
Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	210	139	C Sequence analysis of the entire coding region
Microphthalmia, syndromic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	14	11	C Sequence analysis of the entire coding region
Ectopia Lentis Asper Biogene Asper Biogene LLC Estonia	30	18	C Sequence analysis of the entire coding region
Ectopia Lentis NGS Panel Fulgent Genetics United States	49	15	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
Oculofaciocardiodental Syndrome (BCOR Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	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
Lenz Microphthalmia Syndrome: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	2	C Sequence analysis of the entire coding region
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia	367	291	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
Invitae Oculo-Facio-Cardio-Dental Syndrome Test Invitae United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microphthalmia, syndromic 2 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Microphthalmy Panel CeGaT GmbH Germany	13	26	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
OTX2 MGZ Medical Genetics Center Germany	3	1	C Sequence analysis of the entire coding region
NAA10 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BCOR Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 45

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.