Clinical and research tests for C0032897 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Schaaf-yang syndrome testing (MAGEL2) Genetic Services Laboratory University of Chicago United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SNRPN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Monogenic Obesity Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Prader-Willi syndrome, 176270, Isolated cases (Prader-Willi syndrome) (SNRPN gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Prader-Willi syndrome, 176270, Isolated cases; PWS (Prader-Willi syndrome) (NDN gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Prader-Willi syndrome, 176270, Isolated cases (Prader-Willi syndrome) (SNRPN gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Prader-Willi syndrome, 176270, Isolated cases; PWS (Prader-Willi syndrome) (NDN gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
QNatal Advanced Quest Diagnostics Nichols Institute San Juan Capistrano United States	15	13	C Sequence analysis of the entire coding region
Monogenic Obesity Panel Genetic Services Laboratory University of Chicago United States	17	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Hypotonia Evaluation GeneDx United States	4	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SNRPN Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Prader-Willi syndrome (sequence analysis of NDN gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Prader-Willi syndrome (sequence analysis of SNRPN gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Pain Syndromes (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	7	27	C Sequence analysis of the entire coding region
Prequel Prenatal Screen Myriad Genetics, Inc. United States	13	10	C Sequence analysis of the entire coding region
Prader-Willi/Angelman Syndrome with Methylation Analysis NGS Panel Fulgent Genetics United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Reference Laboratory Genetics Spain	85	77	C Sequence analysis of the entire coding region
PRADER-WILLI & ANGELMAN SYNDROME Laboratorio de Genetica Clinica SL Spain	2	3	M Methylation analysis C Sequence analysis of the entire coding region T Targeted variant analysis
NPAP1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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