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Results: 1 to 20 of 87

Tests names and labsConditionsGenes, analytes, and microbesMethods

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
288218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Schwannomatosis Panel on Tumor Block

Medical Genomics Laboratory Department of Genetics UAB
United States
23
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
23
  • 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
33
  • D Deletion/duplication analysis
  • L Linkage analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
156107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NF2 - MLPA

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis

NF2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Multi-Cancer + RNA Panel

Invitae
United States
14363
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Noonan spectrum disorder Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Noonan spectrum disorder Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurofibromatosis and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
36
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neurofibromatosis and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
36
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neurofibromatosis and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
36
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 87

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.