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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

Chromosome 17q11.2 deletion syndrome, 1.4Mb, 613675, Autosomal dominant (Neurofibromatosis type 1) (Prenatal) (440)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Chromosome 17q11.2 deletion syndrome, 1.4Mb, 613675, Autosomal dominant (Neurofibromatosis type 1) (440)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

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

aCGH study for cryptic quantitative genomic imbalances

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
9024
  • D Deletion/duplication analysis

Rapid microarray (CGH and SNP)

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

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
145112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microarray Testing

Cytogenetics Laboratory SUNY Upstate Medical University
United States
1141
  • F Fluorescence in situ hybridization (FISH)

Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel.

Genologica Medica
Spain
8843
  • C Sequence analysis of the entire coding region

Results: 1 to 8 of 8

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