Clinical and research tests for C0027832 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
OnkoRisk Hereditary Oncology Plus Panel BioReference Health United States	97	77	C Sequence analysis of the entire coding region
Hereditary Cancer Screening - Nervous System & Endocrine Cancer Panel (44 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	52	44	X Mutation scanning of select exons
Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	109	99	X Mutation scanning of select exons
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	287	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qChip 1M Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 60k post-natal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 400 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Schwannomatosis Panel on Tumor Block UAB Medical Genomics Laboratory UAB Medicine United States	2	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurofibromatosis Type 2 (NF2) Next Genetration Sequencing and Deletion/Duplication Testing UAB Medical Genomics Laboratory UAB Medicine United States	1	1	L Linkage analysis C Sequence analysis of the entire coding region
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
qChip 60k prenatal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
NF2-related Schwannomatosis Comprehensive Testing from Paraffin Embedded Biopsy Specimen UAB Medical Genomics Laboratory UAB Medicine United States	1	1	L Linkage analysis C Sequence analysis of the entire coding region
FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	2	3	D Deletion/duplication analysis L Linkage analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
NEUROFIBROMATOSI DE TYPE 2 - NF2 gene Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	3	3	D Deletion/duplication analysis L Linkage analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
CNS tumour panel (20 genes) Molecular Genetics Laboratory North York General Hospital Canada	19	20	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	155	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
NF2 - MLPA Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis

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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.

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Results: 1 to 20 of 124

Results: 1 to 20 of 124