eagle-i The University of PennsylvaniaThe University of Pennsylvania
See it in Search
This page is a preview of the following resource. Continue onto eagle-i search using the button on the right to see the full record.

Diagnostic test service

eagle-i ID


Resource Type

  1. Material analysis service


  1. Fee for service
  2. Resource Description
    The Genetic Diagnostic Laboratory currently performs the following tests: Diagnostic Tests BAP1 Beckwith-Wiedemann Syndrome (BWS) Congenital Hyperinsulinism (CHI) Familial Adenomatous Polyposis (FAP) Fibrodysplasia Ossificans Progressiva (FOP) Hemophilia A (Factor VIII) and Hemophilia B (Factor IX) Hereditary Hemorrhagic Telangiectasia (HHT) Hereditary Nonpolyposis Colorectal Cancer (hMSH2 and hMLH1) IMAGe Syndrome Li-Fraumeni Syndrome (p53) Retinoblastoma (RB1) Russell-Silver syndrome (RSS) SMAD4 X-Inactivation Studies Sturge-Weber Syndrome/Non-Syndromic Port-Wine Stain Testing (SWS)
  3. Service Fee URL
  4. Topic
    familial adenomatous polyposis
  5. Topic
    X-linked disease
  6. Topic
    juvenile polyposis syndrome
  7. Topic
    factor VIII deficiency
  8. Topic
    hemophilia B
  9. Topic
    hereditary hemorrhagic telangiectasia
  10. Topic
    lung cancer
  11. Topic
    fibrodysplasia ossificans progressiva
  12. Topic
    Silver-Russell syndrome
  13. Topic
    malignant mesothelioma
  14. Topic
  15. Topic
    kidney cancer
  16. Topic
    Li-Fraumeni syndrome
  17. Topic
    Lynch syndrome
  18. Topic
    uveal melanoma
  19. Topic
  20. Topic
    skin melanoma
  21. Service Provided by
    Genetic Diagnostic Laboratory (Penn)
  22. Related Publication or Documentation
    Enhanced Sensitivity for Detection of Low-level Germline Mosaic RB1 Mutations in Sporadic Retinoblastoma Cases Using Deep Semi–conductor Sequencing
  23. Related Publication or Documentation
    Genomic profile of 320 uveal melanoma cases: chromosome 8p-loss and metastatic outcome
  24. Related Publication or Documentation
    Genotype and phenotype correlations in 417 children with congenital hyperinsulinism
  25. Website(s)
  26. Related Technique
    Clinical diagnosis
Provenance Metadata About This Resource Record
  1. workflow state
  2. contributor
  3. created
  4. creator
  5. modified
Copyright © 2016 by the President and Fellows of Harvard College
The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016