Clinical and research tests for C0079541 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Holoprosencephaly Panel Genetic Services Laboratory University of Chicago United States	2	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Holoprosencephaly Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microform Holoprosencephaly (HPE10) via the DISP1 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autosomal Dominant, Non-Syndromic Holoprosencephaly via the GAS1 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel PreventionGenetics United States	10	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Holoprosencephaly Panel GeneDx United States	2	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ciliopathies Asper Biogene Asper Biogene LLC Estonia	166	120	C Sequence analysis of the entire coding region
Structural Heart Disease NGS Panel Fulgent Genetics United States	73	28	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
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral Cortical Malformation NGS Panel Fulgent Genetics United States	210	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HOLOPROSENCEPHALY Laboratorio de Genetica Clinica SL Spain	1	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Holoprosencephaly: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	14	C Sequence analysis of the entire coding region
Holoprosencephaly Panel Blueprint Genetics Finland	1	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Holoprosencephaly Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	4	13	C Sequence analysis of the entire coding region
Comprehensive Brain Malformation Panel Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	36	106	C Sequence analysis of the entire coding region
Invitae Holoprosencephaly Panel Invitae United States	6	5	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
BUB1 Single Gene Fulgent Genetics United States	51	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.