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Results: 41 to 55 of 55

Tests names and labsConditionsGenes, analytes, and microbesMethods

Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes

Reference Laboratory Genetics
Spain
7236
  • C Sequence analysis of the entire coding region

CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT) (CONRADI-HÜNERMANN-HAPPLE SYND.)

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

X-Linked Chondrodysplasia Punctata Type 2, Sequencing EBP Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Chondrodysplasia punctata Panel

CeGaT GmbH
Germany
68
  • C Sequence analysis of the entire coding region

Potentially lethal skeletal disorders Panel

CeGaT GmbH
Germany
4544
  • C Sequence analysis of the entire coding region

X-linked dominant chondrodysplasia punctata

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

EBP Single Gene

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

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia

Asper Biogene Asper Biogene LLC
Estonia
16674
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XLID (X-Linked Intellectual Disability) NGS Panel

Fulgent Genetics
United States
162117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Chondrodysplasia punctata

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Chondrodysplasia punctata

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Conradi-Hunermann syndrome

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • A Analyte
  • C Sequence analysis of the entire coding region

Results: 41 to 55 of 55

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.