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Results: 1 to 14 of 14 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Glass syndrome

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

Glass syndrome - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glass syndrome (GLASS) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

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

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

Chromosomal microarray

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2361
  • M FISH-metaphase
  • K Karyotyping
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • U Uniparental disomy study (UPD)

Microarray Testing

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

Invitae Glass Syndrome Test

Invitae
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Invitae Rett and Angelman Syndromes and Related Disorders Panel

Invitae
United States
2822
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
156125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qChip

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

SATB2

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rett/AngelmanNext

Ambry Genetics
United States
3122
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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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