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Results: 1 to 16 of 16

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

Trichorhinophalangeal syndrome, type II, 150230, Autosomal dominant; TRPS2 (Langer-Giedion syndrome) (CHROMOSOME 8q24.1 DELETION SYNDROME) (440)

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

Trichorhinophalangeal syndrome, type II, 150230, Autosomal dominant; TRPS2 (Langer-Giedion syndrome) (CHROMOSOME 8q24.1 DELETION SYNDROME) (Prenatal) (440)

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

qChip 180

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

Langer-Giedion syndrome

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

QNatal Advanced

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
1513
  • C Sequence analysis of the entire coding region

FISH Follow-up

GeneDx
United States
131
  • M FISH-metaphase

FISH Analysis - Langer-Giedion Syndrome Panel (EXT1 and TRPS1)

Baylor Genetics
United States
12
  • T Targeted variant analysis

MaterniT GENOME

Integrated Genetics – Sequenom
United States
231
  • T Targeted variant analysis

Invitae Trichorhinophalangeal Syndrome Panel

Invitae
United States
52
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.