GTR Home > Tests > FoundationOne® Heme

Overview

Test name

Help

FoundationOne® Heme (F1H)

Purpose of the test

Help

This is a clinical test intended for Help: Therapeutic management

Condition

Help

2 conditions tested. Click Indication tab for more information.

How to order

Help

To order F1H please download the requisition form, complete all of the information requested and fax it along with the pathology report and insurance information to (617) 418-2290. Alternatively, set up an account by completing an online account request. If sending peripheral blood or bone marrow aspirate, please follow the specimen preparation instructions for liquid specimens. To order a specimen collection kit, please call (888) 988-3639.
Order URL Help: http://foundationone.com/order.php

Specimen source

Bone marrow
Paraffin block
Peripheral (whole) blood

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq 2500
  • None/not applicable
RRNA analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq 2500
  • None/not applicable
ESequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq 2500
  • None/not applicable
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq 2500
  • None/not applicable

Summary of what is tested

405 genes and variants. Click Methodology tab for more information.

Genes

Clinical utility

Help

Not provided

Clinical validity

Help

Clinical validity for base substitutions, short insertions and deletions (indels), copy number alterations and selected fusions across 405 cancer-related genes was established along with RNA sequencing across 265 genes to capture a broad range of gene fusions. The performance characteristics were determined using 3,824 routine formalin-fixed and paraffin-embedded (FFPE) clinical specimens and were as follows: Sensitivity: Base substitutions (>99%, MAF=5%), Insertions/Deletions (>98%, MAF=10%), Copy Number Alterations (>95%, CN= 8 or 0, =30% tumor nuclei), Fusions (=95%).Specificity (PPV): Base substitutions , Insertions/Deletions and Copy Number Alterations (>99%), Fusions (>95%). Typical median depth of coverage: 463x (DNA) and 6.7M unique pairs (RNA). Sample requirements: FFPE specimens: = 80 µm tissue, of which a minimum of 20% is of malignant origin, on 14 unstained slides or in an FFPE block. Needle biopsy is also acceptable. For bone biopsies, do not use strong acids to decalcify (EDTA is recommended). Liquid specimens: whole blood (collect 2ml whole blood in an EDTA, sodium citrate or sodium heparin tube, as well as 2.5ml whole blood in a PAXgeneBlood RNA tube. >20% malignant nucleated cells are required. Bone marrow: collect 0.5-2.0ml bone marrow aspirate in an EDTA tube; >20% malignant nucleated cells are required.

Citations
  • Submitted for publication.

Test services

Help
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Foundation ACCESS program, comments

Clinical resources

Practice guidelines

  • Nguyen et al., 2011
    Thiopurine methyltransferase (TPMT) genotyping to predict myelosuppression risk

Consumer resources

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