Clinical and research tests for 4692 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NDN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
Prader-Willi syndrome, 176270, Isolated cases; PWS (Prader-Willi syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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; PWS (Prader-Willi syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	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
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
Congenital Hypotonia Xpanded Panel GeneDx United States	10	1423	D Deletion/duplication analysis 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
Congenital Myopathies (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	8	55	C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EpiXpanded Panel GeneDx United States	1	1501	D Deletion/duplication analysis 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
NDN Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.