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Results: 1 to 20 of 38

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

Microdeletion / Microduplication Syndromes

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
2839
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

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

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

Chromosomal microarray

Michigan Medical Genetics Laboratories University of Michigan
United States
181
  • D Deletion/duplication analysis

SNP Microarray Analysis (Chromosomal Microarray)

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
4551
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Phelan-McDermid syndrome, 606232, Isolated cases; PHMDS (Monosomy 22q13) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Phelan-McDermid syndrome, 606232, Isolated cases; PHMDS (Monosomy 22q13) (440)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qChip 180

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

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics
United States
15088
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Phelan-McDermid syndrome

Genetics Service Unit National Institute of Biomedical Genomics
India
11
  • D Deletion/duplication analysis

Phelan-Mcdermid Syndrome, 22q13 Deletion Syndrome, or Autism Spectrum Disorder via the SHANK3 Gene

PreventionGenetics
United States
11
  • 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)

Detection by FISH of Phelan-McDermid syndrome

CGC Genetics Unilabs
Portugal
11
  • F Fluorescence in situ hybridization (FISH)

Autism Spectrum Disorders Panel. NGS panel of 26 genes.

Genologica Medica
Spain
3926
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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.