GTR Home > Tests > Hereditary Spherocytosis

Overview

Test order codeHelp: Hereditary Spherocytosis

Test name

Help

Hereditary Spherocytosis

Purpose of the test

Help

This is a clinical test intended for Help: Screening, Risk Assessment, Diagnosis, Pre-symptomatic

Condition

Help

1 condition tested. Click Indication tab for more information.

Methodology

Help
Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • ION TORRENT (Life Technologies)
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3500 capillary sequencing system

Summary of what is tested

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

Genes

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

Testing strategy

Help

First, we will test for the requested condition. Upon determination of the presence of a disease-related mutation, we can perform targeted-mutation analysis on additional family members upon the request of that additional family member's health-care provider/genetic counselor. Targeted mutation analysis may also be performed for couples considering having children, where one member of the couple is a known carrier of a causal mutation.Testing must be requested by that member's health-care provider.

How to order

Help

Send at least 5ml of whole (peripheral) blood in an EDTA purple-capped anticoagulant tube at room temperature. Fill out order and consent forms (links are at top right of the webpage). Extracted DNA is accepted as well. Appropriate billing mechanism should be established prior to submitting specimen for testing (see "order form" link at top right of lab webpage).
Order URL Help: http://www.yaleblooddiseaselab.org/

Test services

Help
  • targeted mutation analysis by PCR/Sanger Sequencing, upon reques
  • Result interpretation
  • Clinical Testing/Confirmation of Mutations Identified Previously, comments

Clinical resources

Practice guidelines

  • GHTF, 2012
    Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update.

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