Clinical and research tests for 8318 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 56

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Meier-Gorlin syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	8	C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	26	C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniofacial Panel Genetic Services Laboratory University of Chicago United States	31	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1293	C Sequence analysis of the entire coding region
Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	69	C Sequence analysis of the entire coding region
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	231	C Sequence analysis of the entire coding region
Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	104	C Sequence analysis of the entire coding region
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	C Sequence analysis of the entire coding region
Craniosynostosis Panel GeneDx United States	1	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	C Sequence analysis of the entire coding region
Meier-Gorlin syndrome panel. 6-gene NGS panel. Genologica Medica Spain	6	6	C Sequence analysis of the entire coding region
3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain	33	24	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Short Stature Genetics Laboratory University of Oklahoma Health Sciences Center United States	1	86	C Sequence analysis of the entire coding region
Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	19	560	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 56

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.

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Results: 21 to 40 of 56

Results: 21 to 40 of 56