Clinical and research tests for C1840529 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 54

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Holoprosencephaly 3, 142945, Autosomal dominant; HPE3 (Holoprosencephaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Holoprosencephaly 3, 142945, Autosomal dominant; HPE3 (Holoprosencephaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States	130	81	D Deletion/duplication analysis
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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via the SHH Gene PreventionGenetics, part of Exact Sciences 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, part of Exact Sciences United States	10	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SHH Institute for Human Genetics University Medical Center Freiburg Germany	4	1	C Sequence analysis of the entire coding region
Holoprosencephaly panel. 12-gene NGS panel. Genologica Medica Spain	27	12	C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	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
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	9	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	233	234	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Athena Diagnostics United States	43	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Holoprosencephaly Type 3 , Deletions-Duplications (MLPA) SHH Gene Reference Laboratory Genetics Spain	1	1	D Deletion/duplication analysis
Holoprosencephaly Type 3 , Sequencing SHH Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Brain malformations Asper Biogene Asper Biogene LLC Estonia	318	252	C Sequence analysis of the entire coding region
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	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.