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Results: 1 to 20 of 51

Tests names and labsConditionsGenes, analytes, and microbesMethods

Koolen syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • 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

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

qChip 60k prenatal

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

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Comprehensive Epilepsy and Seizure Panel

PreventionGenetics
United States
485374
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Koolen-De Vries syndrome, 610443, Autosomal dominant; KDVS (17q21.31 microdeletion syndrome) (440)

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

Koolen-De Vries syndrome, 610443, Autosomal dominant; KDVS (17q21.31 microdeletion syndrome) (Prenatal) (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

Invitae Epilepsy Panel

Invitae
United States
441289
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microarray Testing

Cytogenetics Laboratory SUNY Upstate Medical University
United States
1151
  • F Fluorescence in situ hybridization (FISH)

Koolen syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KANSL1. Complete sequencing

IGENOMIX
Spain
11
  • C Sequence analysis of the entire coding region

MAPT. Complete sequencing

IGENOMIX
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 51

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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