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Results: 1 to 20 of 135

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Neurofibromatosis Type 2 (NF2) Next Genetration Sequencing and Deletion/Duplication Testing

Medical Genomics Laboratory Department of Genetics UAB
United States
11
  • L Linkage 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

NF2-related Schwannomatosis Comprehensive Testing from Paraffin Embedded Biopsy Specimen

Medical Genomics Laboratory Department of Genetics UAB
United States
11
  • 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
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

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

NF2 - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NF2 - MLPA

Centogene US, LLC - The Rare Disease Company
United States
31
  • D Deletion/duplication analysis

CentoCancer Comprehensive

Centogene US, LLC - The Rare Disease Company
United States
156107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Solid Tumor Panel

Centogene US, LLC - The Rare Disease Company
United States
218135
  • 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

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • 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

Results: 1 to 20 of 135

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.