U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

PGAP2 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperphosphatasia with mental retardation syndrome 3, 614207, Autosomal recessive; HPMRS3 (Hyperphosphatasia-intellectual disability syndrome) (PGAP2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Hyperphosphatasia with mental retardation syndrome 3, 614207, Autosomal recessive; HPMRS3 (Hyperphosphatasia-intellectual disability syndrome) (PGAP2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Inherited Glycosylphosphatidylinositol Biosynthesis Defects (IGDs) Panel

PreventionGenetics, part of Exact Sciences
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperphosphatasia with mental retardation syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
66
  • C Sequence analysis of the entire coding region

Results: 1 to 9 of 9

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.