Filters

See more specimen types...

Other countries

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

Tests names and labsConditionsGenes and analytesMethods

Rapid microarray (CGH and SNP)

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

Brachydacytly-mental retardation syndrome

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

HDAC4

Amplexa Genetics Amplexa Genetics A/S
Denmark
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

HDAC4. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Brachydactyly-Mental Retardation Syndrome , Sequencing HDAC4 Gene

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

HDAC4

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

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brachydactyly-mental retardation syndrome (sequence analysis of HDAC4 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

qChip

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

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Limb Malformation: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
12146
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Gene dosage and expression analysis

Elsea Laboratory Baylor College of Medicine
United States
77
  • R RNA analysis

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.

Support Center